| 1312000 | Asph | aspartate-beta-hydroxylase | ENCODES a protein that exhibits calcium ion binding (ortholog); INVOLVED IN regulation of cytosolic calcium ion concentration; activation of store-operated calcium channel activity (ortholog); calcium ion homeostasis (ortholog); ASSOCIATED WITH Bile Duct Neoplasms (ortholog); cholangiocarcinoma (ort holog); congenital contractural arachnodactyly (ortholog); FOUND IN cortical endoplasmic reticulum (ortholog); cytoplasm (ortholog); endoplasmic reticulum (ortholog); INTERACTS WITH (+)-schisandrin B; 2,3,7,8-tetrachlorodibenzodioxine; alpha-Zearalanol | 5 | 27398933 | 27611519 | Rat | 219 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 1323751 | ASPH | aspartate beta-hydroxylase | This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009] | 8 | 61500556 | 61714592 | Human | 375 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1323752 | Asph | aspartate-beta-hydroxylase | Predicted to enable calcium ion binding activity and peptidyl-aspartic acid 3-dioxygenase activity. Involved in regulation of protein depolymerization and regulation of protein stability. Acts upstream of or within several processes, including face morphogenesis; limb morphogenesis; and peptidyl-asp artic acid hydroxylation. Located in cytoplasm. Is expressed in several structures, including cerebellum; eye; face; heart; and limb. Human ortholog(s) of this gene implicated in cholangiocarcinoma. Orthologous to human ASPH (aspartate beta-hydroxylase). [provided by Alliance of Genome Resources, Jul 2025] | 4 | 9449085 | 9669344 | Mouse | 234 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 8995336 | Asph | aspartate beta-hydroxylase | ENCODES a protein that exhibits calcium ion binding (ortholog); INVOLVED IN activation of store-operated calcium channel activity (ortholog); calcium ion homeostasis (ortholog); calcium ion transmembrane transport (ortholog); ASSOCIATED WITH Bile Duct Neoplasms (ortholog); cholangiocarcinoma (orthol og); congenital contractural arachnodactyly (ortholog); FOUND IN cortical endoplasmic reticulum (ortholog); cytoplasm (ortholog); endoplasmic reticulum (ortholog) | NW_004955444 | 17116060 | 17320966 | Chinchilla | 43 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11924884 | ASPH | aspartate beta-hydroxylase | ENCODES a protein that exhibits calcium ion binding (ortholog); INVOLVED IN activation of store-operated calcium channel activity (ortholog); calcium ion homeostasis (ortholog); calcium ion transmembrane transport (ortholog); ASSOCIATED WITH Bile Duct Neoplasms (ortholog); cholangiocarcinoma (orthol og); congenital contractural arachnodactyly (ortholog); FOUND IN junctional sarcoplasmic reticulum membrane (ortholog); myofibril (ortholog) | 8 | 57921580 | 58134778 | Bonobo | 50 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12419401 | ASPH | aspartate beta-hydroxylase | ENCODES a protein that exhibits calcium ion binding (ortholog); INVOLVED IN regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; activation of store-operated calcium channel activity (ortholog); calcium ion homeostasis (ortholog); ASSOCIATED WITH Bile Duc t Neoplasms (ortholog); cholangiocarcinoma (ortholog); congenital contractural arachnodactyly (ortholog); FOUND IN junctional sarcoplasmic reticulum membrane; membrane; myofibril | 29 | 11812275 | 12022755 | Dog | 54 | symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 12593216 | Asph | aspartate beta-hydroxylase | ENCODES a protein that exhibits calcium ion binding (ortholog); INVOLVED IN activation of store-operated calcium channel activity (ortholog); calcium ion homeostasis (ortholog); calcium ion transmembrane transport (ortholog); ASSOCIATED WITH Bile Duct Neoplasms (ortholog); cholangiocarcinoma (orthol og); congenital contractural arachnodactyly (ortholog); FOUND IN junctional sarcoplasmic reticulum membrane (ortholog); myofibril (ortholog) | NW_004936496 | 11604992 | 11815680 | Squirrel | 51 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14187231 | ASPH | aspartate beta-hydroxylase | ENCODES a protein that exhibits calcium ion binding (ortholog); INVOLVED IN activation of store-operated calcium channel activity (ortholog); calcium ion homeostasis (ortholog); calcium ion transmembrane transport (ortholog); ASSOCIATED WITH Bile Duct Neoplasms (ortholog); cholangiocarcinoma (orthol og); congenital contractural arachnodactyly (ortholog); FOUND IN junctional sarcoplasmic reticulum membrane (ortholog); myofibril (ortholog); INTERACTS WITH deoxynivalenol | | | | Pig | 54 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14372119 | Asph | | | | | | Fly | | symbol | gene, null |
| 18432230 | ASPH | aspartate beta-hydroxylase | ENCODES a protein that exhibits calcium ion binding (ortholog); INVOLVED IN activation of store-operated calcium channel activity (ortholog); calcium ion homeostasis (ortholog); calcium ion transmembrane transport (ortholog); ASSOCIATED WITH Bile Duct Neoplasms (ortholog); cholangiocarcinoma (orthol og); congenital contractural arachnodactyly (ortholog); FOUND IN junctional sarcoplasmic reticulum membrane (ortholog); myofibril (ortholog) | | | | Green Monkey | 50 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18925216 | Asph | aspartate beta-hydroxylase | ENCODES a protein that exhibits calcium ion binding (ortholog); INVOLVED IN activation of store-operated calcium channel activity (ortholog); calcium ion homeostasis (ortholog); calcium ion transmembrane transport (ortholog); ASSOCIATED WITH Bile Duct Neoplasms (ortholog); cholangiocarcinoma (orthol og); congenital contractural arachnodactyly (ortholog); FOUND IN cortical endoplasmic reticulum (ortholog); junctional sarcoplasmic reticulum membrane (ortholog); myofibril (ortholog) | | | | Naked Mole-Rat | 49 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 598150957 | asph | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 598154241 | asph | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 598154478 | asph | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 626086835 | Asph | aspartate beta-hydroxylase | ENCODES a protein that exhibits calcium ion binding (ortholog); INVOLVED IN activation of store-operated calcium channel activity (ortholog); calcium ion homeostasis (ortholog); calcium ion transmembrane transport (ortholog); ASSOCIATED WITH Bile Duct Neoplasms (ortholog); cholangiocarcinoma (orthol og); congenital contractural arachnodactyly (ortholog); FOUND IN cortical endoplasmic reticulum (ortholog); cytoplasm (ortholog); endoplasmic reticulum (ortholog) | | | | Black Rat | 43 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 1306636 | Asphd1 | aspartate beta-hydroxylase domain containing 1 | ENCODES a protein that exhibits dioxygenase activity (inferred); oxidoreductase activity (inferred); ASSOCIATED WITH spondylocostal dysostosis 5 (ortholog); INTERACTS WITH 2,2',4,4'-Tetrabromodiphenyl ether; 6-propyl-2-thiouracil; acrylamide | 1 | 190983506 | 190987440 | Rat | 51 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 1315363 | Asphd1 | aspartate beta-hydroxylase domain containing 1 | Predicted to enable dioxygenase activity. Predicted to be located in membrane. Orthologous to human ASPHD1 (aspartate beta-hydroxylase domain containing 1). [provided by Alliance of Genome Resources, Jul 2025] | 7 | 126545159 | 126548754 | Mouse | 63 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 1605839 | ASPHD1 | aspartate beta-hydroxylase domain containing 1 | Predicted to enable dioxygenase activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025] | 16 | 29900363 | 29919864 | Human | 51 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 8871156 | Asphd1 | aspartate beta-hydroxylase domain containing 1 | ASSOCIATED WITH spondylocostal dysostosis 5 (ortholog) | NW_004955493 | 7055944 | 7076802 | Chinchilla | 1 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12032005 | ASPHD1 | aspartate beta-hydroxylase domain containing 1 | ENCODES a protein that exhibits dioxygenase activity (inferred); oxidoreductase activity (inferred); ASSOCIATED WITH spondylocostal dysostosis 5 (ortholog); FOUND IN membrane (inferred) | | | | Bonobo | 4 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12386976 | ASPHD1 | aspartate beta-hydroxylase domain containing 1 | ENCODES a protein that exhibits dioxygenase activity (inferred); oxidoreductase activity (inferred); ASSOCIATED WITH spondylocostal dysostosis 5 (ortholog) | 6 | 17941306 | 17945594 | Dog | 3 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12566272 | Asphd1 | aspartate beta-hydroxylase domain containing 1 | ENCODES a protein that exhibits dioxygenase activity (inferred); oxidoreductase activity (inferred); ASSOCIATED WITH spondylocostal dysostosis 5 (ortholog); FOUND IN membrane (inferred) | NW_004936501 | 12557551 | 12561896 | Squirrel | 4 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 13920548 | ASPHD1 | aspartate beta-hydroxylase domain containing 1 | ENCODES a protein that exhibits dioxygenase activity (inferred); oxidoreductase activity (inferred); ASSOCIATED WITH spondylocostal dysostosis 5 (ortholog) | | | | Pig | 3 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18674217 | ASPHD1 | aspartate beta-hydroxylase domain containing 1 | ENCODES a protein that exhibits dioxygenase activity (inferred); oxidoreductase activity (inferred); ASSOCIATED WITH spondylocostal dysostosis 5 (ortholog); FOUND IN membrane (inferred) | | | | Green Monkey | 4 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18913168 | Asphd1 | aspartate beta-hydroxylase domain containing 1 | ENCODES a protein that exhibits dioxygenase activity (inferred); oxidoreductase activity (inferred); ASSOCIATED WITH spondylocostal dysostosis 5 (ortholog); FOUND IN membrane (inferred) | | | | Naked Mole-Rat | 4 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 626056145 | Asphd1 | aspartate beta-hydroxylase domain containing 1 | | | | | Black Rat | | symbol | gene, protein-coding, MODEL [RefSeq] |
| 1306020 | Asphd2 | aspartate beta-hydroxylase domain containing 2 | ENCODES a protein that exhibits dioxygenase activity (inferred); metal ion binding (inferred); oxidoreductase activity (inferred); FOUND IN membrane (inferred); INTERACTS WITH 4,4'-sulfonyldiphenol; 6-propyl-2-thiouracil; bisphenol A | 12 | 49908539 | 49919060 | Rat | 68 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 1314397 | Asphd2 | aspartate beta-hydroxylase domain containing 2 | Predicted to enable dioxygenase activity and metal ion binding activity. Predicted to be located in membrane. Orthologous to human ASPHD2 (aspartate beta-hydroxylase domain containing 2). [provided by Alliance of Genome Resources, Jul 2025] | 5 | 112532220 | 112543236 | Mouse | 70 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 1601744 | ASPHD2 | aspartate beta-hydroxylase domain containing 2 | Predicted to enable dioxygenase activity and metal ion binding activity. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025] | 22 | 26429260 | 26445015 | Human | 69 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 8866413 | Asphd2 | aspartate beta-hydroxylase domain containing 2 | | NW_004955455 | 1030962 | 1039129 | Chinchilla | 1 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11895135 | ASPHD2 | aspartate beta-hydroxylase domain containing 2 | ENCODES a protein that exhibits dioxygenase activity (inferred); oxidoreductase activity (inferred); FOUND IN membrane (inferred) | 22 | 7491361 | 7505547 | Bonobo | 5 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12118236 | ASPHD2 | aspartate beta-hydroxylase domain containing 2 | ENCODES a protein that exhibits dioxygenase activity (inferred); oxidoreductase activity (inferred); FOUND IN membrane (inferred) | 26 | 20110361 | 20123906 | Dog | 4 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12737055 | Asphd2 | aspartate beta-hydroxylase domain containing 2 | ENCODES a protein that exhibits dioxygenase activity (inferred); oxidoreductase activity (inferred); FOUND IN membrane (inferred) | NW_004936657 | 1060782 | 1069401 | Squirrel | 5 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14222201 | ASPHD2 | aspartate beta-hydroxylase domain containing 2 | ENCODES a protein that exhibits dioxygenase activity (inferred); oxidoreductase activity (inferred); FOUND IN membrane (inferred) | | | | Pig | 4 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18403091 | ASPHD2 | aspartate beta-hydroxylase domain containing 2 | ENCODES a protein that exhibits dioxygenase activity (inferred); oxidoreductase activity (inferred); FOUND IN membrane (inferred) | | | | Green Monkey | 5 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18902917 | Asphd2 | aspartate beta-hydroxylase domain containing 2 | ENCODES a protein that exhibits dioxygenase activity (inferred); oxidoreductase activity (inferred); FOUND IN membrane (inferred) | | | | Naked Mole-Rat | 5 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155247652 | asphd2 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 625900210 | Asphd2 | aspartate beta-hydroxylase domain containing 2 | | | | | Black Rat | 1 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155258001 | asphd2.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155247653 | asphd2.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 71042 | Dync2h1 | dynein cytoplasmic 2 heavy chain 1 | ENCODES a protein that exhibits dynein light intermediate chain binding; minus-end-directed microtubule motor activity (ortholog); INVOLVED IN cilium assembly; coronary vasculature development (ortholog); determination of left/right symmetry (ortholog); PARTICIPATES IN phagocytosis pathway; vasopres sin signaling pathway via receptor type 2; ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN apical part of cell; cytoplasmic dynein complex; axoneme (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; amitrole | 8 | 12473955 | 12697075 | Rat | 173 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 735308 | Dync2h1 | dynein cytoplasmic 2 heavy chain 1 | Predicted to enable dynein intermediate chain binding activity; dynein light intermediate chain binding activity; and minus-end-directed microtubule motor activity. Acts upstream of or within several processes, including central nervous system development; cilium organization; and regionalization. L ocated in apical part of cell; axoneme; and motile cilium. Is expressed in several structures, including brain ventricular layer; cerebral cortex; lung; olfactory epithelium; and secondary heart field. Used to study VACTERL association and asphyxiating thoracic dystrophy 3. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy and asphyxiating thoracic dystrophy 3. Orthologous to human DYNC2H1 (dynein cytoplasmic 2 heavy chain 1). [provided by Alliance of Genome Resources, Jul 2025] | 9 | 6928550 | 7177619 | Mouse | 207 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 9004629 | Dync2h1 | dynein cytoplasmic 2 heavy chain 1 | ENCODES a protein that exhibits dynein light intermediate chain binding (ortholog); minus-end-directed microtubule motor activity (ortholog); INVOLVED IN cilium assembly (ortholog); coronary vasculature development (ortholog); determination of left/right symmetry (ortholog); ASSOCIATED WITH asph yle='font-weight:700;'>asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN apical part of cell (ortholog); axoneme (ortholog); cytoplasmic dynein complex (ortholog) | NW_004955412 | 6267726 | 6518888 | Chinchilla | 58 | description | gene, protein-coding, MODEL [RefSeq] |
| 11798965 | DYNC2H1 | dynein cytoplasmic 2 heavy chain 1 | ENCODES a protein that exhibits ATP binding (inferred); dynein intermediate chain binding (inferred); dynein light intermediate chain binding (inferred); INVOLVED IN cilium assembly (ortholog); coronary vasculature development (ortholog); determination of left/right symmetry (ortholog); ASSOCIATED W ITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN apical part of cell (ortholog); cytoplasmic dynein complex (ortholog) | 11 | 98051788 | 98425676 | Bonobo | 72 | description | gene, protein-coding, MODEL [RefSeq] |
| 12362545 | DYNC2H1 | dynein cytoplasmic 2 heavy chain 1 | ENCODES a protein that exhibits minus-end-directed microtubule motor activity (ortholog); INVOLVED IN cilium assembly (ortholog); coronary vasculature development (ortholog); determination of left/right symmetry (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN apical part of cell (ortholog); cytoplasmic dynein complex (ortholog); Golgi apparatus (ortholog); INTERACTS WITH bisphenol A | 5 | 28566604 | 28727416 | Dog | 70 | description | gene, protein-coding, MODEL [RefSeq] |
| 12549083 | Dync2h1 | dynein cytoplasmic 2 heavy chain 1 | ENCODES a protein that exhibits ATP binding (inferred); dynein intermediate chain binding (inferred); dynein light intermediate chain binding (inferred); INVOLVED IN cilium assembly (ortholog); coronary vasculature development (ortholog); determination of left/right symmetry (ortholog); ASSOCIATED W ITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN apical part of cell (ortholog); cytoplasmic dynein complex (ortholog) | NW_004936551 | 4584438 | 4913829 | Squirrel | 73 | description | gene, protein-coding, MODEL [RefSeq] |
| 13971267 | DYNC2H1 | dynein cytoplasmic 2 heavy chain 1 | ENCODES a protein that exhibits ATP binding (inferred); dynein intermediate chain binding (inferred); dynein light intermediate chain binding (inferred); INVOLVED IN cilium assembly (ortholog); coronary vasculature development (ortholog); determination of left/right symmetry (ortholog); ASSOCIATED W ITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN apical part of cell (ortholog); cytoplasmic dynein complex (ortholog); INTERACTS WITH resveratrol | | | | Pig | 75 | description | gene, protein-coding, MODEL [RefSeq] |
| 18475825 | DYNC2H1 | dynein cytoplasmic 2 heavy chain 1 | ENCODES a protein that exhibits ATP binding (inferred); dynein intermediate chain binding (inferred); dynein light intermediate chain binding (inferred); INVOLVED IN cilium assembly (ortholog); coronary vasculature development (ortholog); determination of left/right symmetry (ortholog); ASSOCIATED W ITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN apical part of cell (ortholog); cytoplasmic dynein complex (ortholog) | | | | Green Monkey | 72 | description | gene, protein-coding, MODEL [RefSeq] |
| 18933517 | Dync2h1 | dynein cytoplasmic 2 heavy chain 1 | ENCODES a protein that exhibits minus-end-directed microtubule motor activity (ortholog); INVOLVED IN cilium assembly (ortholog); coronary vasculature development (ortholog); determination of left/right symmetry (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN apical part of cell (ortholog); cytoplasmic dynein complex (ortholog); Golgi apparatus (ortholog) | | | | Naked Mole-Rat | 71 | description | gene, protein-coding, MODEL [RefSeq] |
| 626159005 | Dync2h1 | dynein cytoplasmic 2 heavy chain 1 | ENCODES a protein that exhibits dynein light intermediate chain binding (ortholog); minus-end-directed microtubule motor activity (ortholog); INVOLVED IN cilium assembly (ortholog); coronary vasculature development (ortholog); determination of left/right symmetry (ortholog); ASSOCIATED WITH asph yle='font-weight:700;'>asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN apical part of cell (ortholog); axoneme (ortholog); cytoplasmic dynein complex (ortholog) | | | | Black Rat | 56 | description | gene, protein-coding, MODEL [RefSeq] |
| 1306493 | Dync2i1 | dynein 2 intermediate chain 1 | ENCODES a protein that exhibits dynein light chain binding (ortholog); INVOLVED IN cilium assembly (ortholog); embryonic skeletal system morphogenesis (ortholog); intraciliary retrograde transport (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (orth olog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN centrosome (ortholog); ciliary base (ortholog); cilium (ortholog); INTERACTS WITH 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine; bisphenol A | 6 | 143276441 | 143333006 | Rat | 94 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8791703 | Dync2i1 | dynein 2 intermediate chain 1 | ENCODES a protein that exhibits dynein light chain binding (ortholog); INVOLVED IN cilium assembly (ortholog); embryonic skeletal system morphogenesis (ortholog); intraciliary retrograde transport (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (orth olog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN centrosome (ortholog); ciliary base (ortholog); cilium (ortholog) | NW_004955579 | 1056291 | 1124623 | Chinchilla | 26 | description | gene, protein-coding, MODEL [RefSeq] |
| 11693211 | DYNC2I1 | dynein 2 intermediate chain 1 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); dynein light chain binding (inferred); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); embryonic skeletal system morphogenesis (inferred); ASSOCIATED WITH asph >yxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN centrosome (inferred); ciliary base (inferred); cilium (inferred) | | | | Bonobo | 32 | description | gene, protein-coding, MODEL [RefSeq] |
| 12099336 | DYNC2I1 | dynein 2 intermediate chain 1 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); dynein light chain binding (inferred); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); embryonic skeletal system morphogenesis (inferred); ASSOCIATED WITH asph >yxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN centrosome (inferred); ciliary base (inferred); cilium (inferred) | 16 | 20810735 | 20859441 | Dog | 40 | description | gene, protein-coding, MODEL [RefSeq] |
| 12552570 | Dync2i1 | dynein 2 intermediate chain 1 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); dynein light chain binding (inferred); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); embryonic skeletal system morphogenesis (inferred); ASSOCIATED WITH asph >yxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN centrosome (inferred); ciliary base (inferred); cilium (inferred) | NW_004936856 | 724863 | 792490 | Squirrel | 32 | description | gene, protein-coding, MODEL [RefSeq] |
| 14145712 | DYNC2I1 | dynein 2 intermediate chain 1 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); dynein light chain binding (inferred); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); embryonic skeletal system morphogenesis (inferred); ASSOCIATED WITH asph >yxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN centrosome (inferred); ciliary base (inferred); cilium (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 40 | description | gene, protein-coding, MODEL [RefSeq] |
| 18659568 | DYNC2I1 | dynein 2 intermediate chain 1 | ENCODES a protein that exhibits dynein light chain binding (ortholog); INVOLVED IN cilium assembly (ortholog); embryonic skeletal system morphogenesis (ortholog); intraciliary retrograde transport (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (orth olog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN centrosome (ortholog); ciliary base (ortholog); cilium (ortholog) | | | | Green Monkey | 26 | description | gene, protein-coding, MODEL [RefSeq] |
| 18907747 | Dync2i1 | dynein 2 intermediate chain 1 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); dynein light chain binding (inferred); INVOLVED IN cilium assembly (ortholog); embryonic skeletal system morphogenesis (ortholog); intraciliary retrograde transport (ortholog); ASSOCIATED WITH asph /span>yxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN ciliary base (ortholog); interphase microtubule organizing center (ortholog); pericentriolar material (ortholog) | | | | Naked Mole-Rat | 30 | description | gene, protein-coding, MODEL [RefSeq] |
| 1550300 | Ift80 | intraflagellar transport 80 | Acts upstream of or within several processes, including cell surface receptor signaling pathway; intracellular signaling cassette; and skeletal system development. Located in centrosome and ciliary basal body. Part of intraciliary transport particle B. Is active in 9+0 non-motile cilium. Is expresse d in brain. Used to study asphyxiating thoracic dystrophy 2 and asphyxiating thoracic dystrophy 3. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy 2. Orthologous to human IFT80 (intraflagellar transport 80). [provided by Alliance of Genome Resources, Jul 2025] | 3 | 68799832 | 68911939 | Mouse | 186 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1565122 | Ttc21b | tetratricopeptide repeat domain 21B | ENCODES a protein that exhibits chromatin binding (ortholog); INVOLVED IN Bergmann glial cell differentiation (ortholog); cerebellar Purkinje cell differentiation (ortholog); cerebellum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ort holog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 4 (ortholog); FOUND IN intraciliary transport particle A (ortholog); INTERACTS WITH 3-chloropropane-1,2-diol; bisphenol A; cadmium dichloride | 3 | 71269425 | 71343936 | Rat | 108 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8989949 | Ttc21b | tetratricopeptide repeat domain 21B | ENCODES a protein that exhibits chromatin binding (ortholog); INVOLVED IN Bergmann glial cell differentiation (ortholog); cerebellar Purkinje cell differentiation (ortholog); cerebellum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ort holog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 4 (ortholog); FOUND IN intraciliary transport particle A (ortholog) | NW_004955449 | 8242327 | 8306012 | Chinchilla | 61 | description | gene, protein-coding, MODEL [RefSeq] |
| 11724168 | TTC21B | tetratricopeptide repeat domain 21B | ENCODES a protein that exhibits chromatin binding (inferred); INVOLVED IN Bergmann glial cell differentiation (ortholog); cerebellar Purkinje cell differentiation (ortholog); cerebellum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ort holog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 4 (ortholog); FOUND IN axoneme (inferred); intraciliary transport particle A (inferred) | 2B | 53140199 | 53220535 | Bonobo | 66 | description | gene, protein-coding, MODEL [RefSeq] |
| 12258346 | TTC21B | tetratricopeptide repeat domain 21B | ENCODES a protein that exhibits chromatin binding (ortholog); INVOLVED IN Bergmann glial cell differentiation (ortholog); cerebellar Purkinje cell differentiation (ortholog); cerebellum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ort holog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 4 (ortholog); FOUND IN axoneme (inferred); intraciliary transport particle A (inferred) | 36 | 11009362 | 11086586 | Dog | 65 | description | gene, protein-coding, MODEL [RefSeq] |
| 12513803 | Ttc21b | tetratricopeptide repeat domain 21B | ENCODES a protein that exhibits chromatin binding (inferred); identical protein binding (inferred); INVOLVED IN Bergmann glial cell differentiation (ortholog); cerebellar Purkinje cell differentiation (ortholog); cerebellum development (ortholog); ASSOCIATED WITH asph /span>yxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 4 (ortholog); FOUND IN axoneme (inferred); intraciliary transport particle A (inferred) | NW_004936469 | 13365168 | 13454340 | Squirrel | 67 | description | gene, protein-coding, MODEL [RefSeq] |
| 14155880 | TTC21B | tetratricopeptide repeat domain 21B | ENCODES a protein that exhibits chromatin binding (inferred); INVOLVED IN Bergmann glial cell differentiation (ortholog); cerebellar Purkinje cell differentiation (ortholog); cerebellum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ort holog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 4 (ortholog); FOUND IN axoneme (inferred); intraciliary transport particle A (inferred) | | | | Pig | 66 | description | gene, protein-coding, MODEL [RefSeq] |
| 18445055 | TTC21B | tetratricopeptide repeat domain 21B | ENCODES a protein that exhibits chromatin binding (inferred); INVOLVED IN Bergmann glial cell differentiation (ortholog); cerebellar Purkinje cell differentiation (ortholog); cerebellum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ort holog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 4 (ortholog); FOUND IN axoneme (inferred); intraciliary transport particle A (inferred) | | | | Green Monkey | 66 | description | gene, protein-coding, MODEL [RefSeq] |
| 18924851 | Ttc21b | tetratricopeptide repeat domain 21B | ENCODES a protein that exhibits chromatin binding (inferred); identical protein binding (inferred); INVOLVED IN Bergmann glial cell differentiation (ortholog); cerebellar Purkinje cell differentiation (ortholog); cerebellum development (ortholog); ASSOCIATED WITH asph /span>yxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 4 (ortholog); FOUND IN axoneme (inferred); intraciliary transport particle A (inferred) | | | | Naked Mole-Rat | 67 | description | gene, protein-coding, MODEL [RefSeq] |
| 626066773 | Ttc21b | tetratricopeptide repeat domain 21B | ENCODES a protein that exhibits chromatin binding (ortholog); INVOLVED IN Bergmann glial cell differentiation (ortholog); cerebellar Purkinje cell differentiation (ortholog); cerebellum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ort holog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 4 (ortholog); FOUND IN intraciliary transport particle A (ortholog) | | | | Black Rat | 52 | description | gene, protein-coding, MODEL [RefSeq] |
| 1306997 | Wdr19 | WD repeat domain 19 | INVOLVED IN cell morphogenesis (ortholog); cilium assembly (ortholog); digestive system development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asph style='font-weight:700;'>asphyxiating thoracic dystrophy 5 (ortholog); FOUND IN cilium (ortholog); intraciliary transport particle A (ortholog); motile cilium (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; acetamide | 14 | 43396130 | 43460012 | Rat | 162 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8801756 | Wdr19 | WD repeat domain 19 | INVOLVED IN cell morphogenesis (ortholog); cilium assembly (ortholog); digestive system development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asph style='font-weight:700;'>asphyxiating thoracic dystrophy 5 (ortholog); FOUND IN cilium (ortholog); intraciliary transport particle A (ortholog); motile cilium (ortholog) | NW_004955443 | 8053847 | 8122918 | Chinchilla | 69 | description | gene, protein-coding, MODEL [RefSeq] |
| 11713650 | WDR19 | WD repeat domain 19 | INVOLVED IN cell morphogenesis (ortholog); cilium assembly (ortholog); digestive system development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asph style='font-weight:700;'>asphyxiating thoracic dystrophy 5 (ortholog); FOUND IN cilium (inferred); intraciliary transport particle A (inferred); motile cilium (inferred) | 4 | 33511283 | 33616946 | Bonobo | 80 | description | gene, protein-coding, MODEL [RefSeq] |
| 12341347 | WDR19 | WD repeat domain 19 | INVOLVED IN cell morphogenesis (ortholog); cilium assembly (ortholog); digestive system development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asph style='font-weight:700;'>asphyxiating thoracic dystrophy 5 (ortholog); FOUND IN cilium (inferred); intraciliary transport particle A (inferred); motile cilium (inferred) | 3 | 73115560 | 73213823 | Dog | 80 | description | gene, protein-coding, MODEL [RefSeq] |
| 12463463 | Wdr19 | WD repeat domain 19 | INVOLVED IN cell morphogenesis (ortholog); cilium assembly (ortholog); digestive system development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asph style='font-weight:700;'>asphyxiating thoracic dystrophy 5 (ortholog); FOUND IN cilium (inferred); intraciliary transport particle A (inferred); motile cilium (inferred) | NW_004936482 | 6863592 | 6937810 | Squirrel | 80 | description | gene, protein-coding, MODEL [RefSeq] |
| 13931933 | WDR19 | WD repeat domain 19 | INVOLVED IN cell morphogenesis (ortholog); cilium assembly (ortholog); digestive system development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asph style='font-weight:700;'>asphyxiating thoracic dystrophy 5 (ortholog); FOUND IN cilium (inferred); intraciliary transport particle A (inferred); motile cilium (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 82 | description | gene, protein-coding, MODEL [RefSeq] |
| 18523305 | WDR19 | WD repeat domain 19 | INVOLVED IN cell morphogenesis (ortholog); cilium assembly (ortholog); digestive system development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asph style='font-weight:700;'>asphyxiating thoracic dystrophy 5 (ortholog); FOUND IN cilium (inferred); intraciliary transport particle A (inferred); motile cilium (inferred) | | | | Green Monkey | 80 | description | gene, protein-coding, MODEL [RefSeq] |
| 18906743 | Wdr19 | WD repeat domain 19 | INVOLVED IN cell morphogenesis (ortholog); cilium assembly (ortholog); digestive system development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asph style='font-weight:700;'>asphyxiating thoracic dystrophy 5 (ortholog); FOUND IN non-motile cilium (ortholog); photoreceptor connecting cilium (ortholog); sperm midpiece (ortholog) | | | | Naked Mole-Rat | 76 | description | gene, protein-coding, MODEL [RefSeq] |
| 626008358 | Wdr19 | WD repeat domain 19 | INVOLVED IN cell morphogenesis (ortholog); cilium assembly (ortholog); digestive system development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asph style='font-weight:700;'>asphyxiating thoracic dystrophy 5 (ortholog); FOUND IN cilium (ortholog); intraciliary transport particle A (ortholog); motile cilium (ortholog) | | | | Black Rat | 67 | description | gene, protein-coding, MODEL [RefSeq] |
| 1359465 | Dync2i2 | dynein 2 intermediate chain 2 | ENCODES a protein that exhibits dynein light chain binding (ortholog); INVOLVED IN cilium assembly (ortholog); intraciliary retrograde transport (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxi ating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (ortholog); centriole (ortholog); centrosome (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,4,6-trinitrotoluene; 4,4'-sulfonyldiphenol | 3 | 33703882 | 33719960 | Rat | 136 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8700207 | Dync2i2 | dynein 2 intermediate chain 2 | ENCODES a protein that exhibits dynein light chain binding (ortholog); INVOLVED IN cilium assembly (ortholog); intraciliary retrograde transport (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxi ating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (ortholog); centriole (ortholog); centrosome (ortholog) | NW_004955570 | 1076498 | 1086629 | Chinchilla | 32 | description | gene, protein-coding, MODEL [RefSeq] |
| 11951123 | DYNC2I2 | dynein 2 intermediate chain 2 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); dynein light chain binding (inferred); INVOLVED IN cilium assembly (inferred); intraciliary retrograde transport (inferred); intraciliary transport (inferred); ASSOCIATED WITH asphyxiating th oracic dystrophy (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (inferred); centriole (inferred); centrosome (inferred) | 9 | 99755972 | 99780279 | Bonobo | 42 | description | gene, protein-coding, MODEL [RefSeq] |
| 12123440 | DYNC2I2 | dynein 2 intermediate chain 2 | ENCODES a protein that exhibits dynein light chain binding (inferred); INVOLVED IN cilium assembly (inferred); intraciliary retrograde transport (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxi ating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (inferred); centriole (inferred); centrosome (inferred) | 9 | 54930039 | 54953752 | Dog | 39 | description | gene, protein-coding, MODEL [RefSeq] |
| 12690249 | Dync2i2 | dynein 2 intermediate chain 2 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); dynein light chain binding (inferred); INVOLVED IN cilium assembly (inferred); intraciliary retrograde transport (inferred); intraciliary transport (inferred); ASSOCIATED WITH asphyxiating th oracic dystrophy (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (inferred); centriole (inferred); centrosome (inferred) | NW_004936487 | 16142659 | 16157929 | Squirrel | 41 | description | gene, protein-coding, MODEL [RefSeq] |
| 14124055 | DYNC2I2 | dynein 2 intermediate chain 2 | ENCODES a protein that exhibits dynein light chain binding (inferred); INVOLVED IN cilium assembly (inferred); intraciliary retrograde transport (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxi ating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (inferred); centriole (inferred); centrosome (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 40 | description | gene, protein-coding, MODEL [RefSeq] |
| 18584579 | DYNC2I2 | dynein 2 intermediate chain 2 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); dynein light chain binding (inferred); INVOLVED IN cilium assembly (inferred); intraciliary retrograde transport (inferred); intraciliary transport (inferred); ASSOCIATED WITH asphyxiating th oracic dystrophy (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (inferred); centriole (inferred); centrosome (inferred) | | | | Green Monkey | 41 | description | gene, protein-coding, MODEL [RefSeq] |
| 18916401 | Dync2i2 | dynein 2 intermediate chain 2 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); dynein light chain binding (inferred); INVOLVED IN cilium assembly (inferred); intraciliary retrograde transport (inferred); intraciliary transport (inferred); ASSOCIATED WITH asphyxiating th oracic dystrophy (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN centriole (ortholog); cilium (ortholog); cytosol (ortholog) | | | | Naked Mole-Rat | 34 | description | gene, protein-coding, MODEL [RefSeq] |
| 625917821 | Dync2i2 | dynein 2 intermediate chain 2 | ENCODES a protein that exhibits dynein light chain binding (ortholog); INVOLVED IN cilium assembly (ortholog); intraciliary retrograde transport (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxi ating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (ortholog); centriole (ortholog); centrosome (ortholog) | | | | Black Rat | 31 | description | gene, protein-coding, MODEL [RefSeq] |
| 1310286 | Dync2li1 | dynein cytoplasmic 2 light intermediate chain 1 | ENCODES a protein that exhibits dynein heavy chain binding; INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); intraciliary transport involved in cilium assembly (ortholog); PARTICIPATES IN vasopressin signaling pathway via receptor type 2; ASSOCIATED WITH asph style='font-weight:700;'>asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN apical part of cell (ortholog); axoneme (ortholog); centrosome (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1 | 6 | 15745350 | 15778166 | Rat | 116 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8861228 | Dync2li1 | dynein cytoplasmic 2 light intermediate chain 1 | ENCODES a protein that exhibits dynein heavy chain binding (ortholog); INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); intraciliary transport involved in cilium assembly (ortholog); ASSOCIATED WITH asphyxiating thoracic d ystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN apical part of cell (ortholog); axoneme (ortholog); centrosome (ortholog) | NW_004955441 | 10928577 | 10961194 | Chinchilla | 29 | description | gene, protein-coding, MODEL [RefSeq] |
| 11807245 | DYNC2LI1 | dynein cytoplasmic 2 light intermediate chain 1 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asph yxiating thoracic dystrophy 1 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN cytoplasmic microtubule (ortholog) | 2A | 43858368 | 43912262 | Bonobo | 42 | description | gene, protein-coding, MODEL [RefSeq] |
| 12066844 | DYNC2LI1 | dynein cytoplasmic 2 light intermediate chain 1 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asph yxiating thoracic dystrophy 1 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN apical part of cell; cilium; cytoplasmic microtubule | 10 | 46231433 | 46270102 | Dog | 42 | description | gene, protein-coding, MODEL [RefSeq] |
| 12461604 | Dync2li1 | dynein cytoplasmic 2 light intermediate chain 1 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asph yxiating thoracic dystrophy 1 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN cytoplasmic microtubule (ortholog) | NW_004936508 | 8119733 | 8149022 | Squirrel | 40 | description | gene, protein-coding, MODEL [RefSeq] |
| 14213570 | DYNC2LI1 | dynein cytoplasmic 2 light intermediate chain 1 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asph yxiating thoracic dystrophy 1 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN cytoplasmic microtubule (ortholog); INTERACTS WITH deoxynivalenol | | | | Pig | 41 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 18747314 | DYNC2LI1 | dynein cytoplasmic 2 light intermediate chain 1 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asph yxiating thoracic dystrophy 1 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN cytoplasmic microtubule (ortholog) | | | | Green Monkey | 40 | description | gene, protein-coding, MODEL [RefSeq] |
| 18904621 | Dync2li1 | dynein cytoplasmic 2 light intermediate chain 1 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); regulation of cilium assembly (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN apical part of cell (ortholog); ciliary transition zone (ortholog); cilium (ortholog) | | | | Naked Mole-Rat | 36 | description | gene, protein-coding, MODEL [RefSeq] |
| 626066663 | Dync2li1 | dynein cytoplasmic 2 light intermediate chain 1 | ENCODES a protein that exhibits dynein heavy chain binding (ortholog); INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); intraciliary transport involved in cilium assembly (ortholog); ASSOCIATED WITH asphyxiating thoracic d ystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN apical part of cell (ortholog); axoneme (ortholog); centrosome (ortholog) | | | | Black Rat | 29 | description | gene, protein-coding, MODEL [RefSeq] |
| 1563597 | Dynlt2b | dynein light chain Tctex-type 2B | ENCODES a protein that exhibits dynein intermediate chain binding (ortholog); INVOLVED IN cilium assembly (ortholog); intraciliary retrograde transport (ortholog); regulation of cilium assembly (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholo g); asphyxiating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (ortholog); centrosome (ortholog); ciliary base (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; amitrole | 11 | 81864195 | 81872555 | Rat | 73 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 8733717 | Dynlt2b | dynein light chain Tctex-type 2B | ENCODES a protein that exhibits dynein intermediate chain binding (ortholog); INVOLVED IN cilium assembly (ortholog); intraciliary retrograde transport (ortholog); regulation of cilium assembly (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholo g); asphyxiating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (ortholog); centrosome (ortholog); ciliary base (ortholog) | NW_004955420 | 12515195 | 12528863 | Chinchilla | 24 | description | gene, protein-coding, MODEL [RefSeq] |
| 12049777 | DYNLT2B | dynein light chain Tctex-type 2B | ENCODES a protein that exhibits dynein intermediate chain binding (inferred); INVOLVED IN cilium assembly (inferred); intraciliary retrograde transport (inferred); microtubule-based movement (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary base (inferred) | 3 | 193636238 | 193665254 | Bonobo | 29 | description | gene, protein-coding, MODEL [RefSeq] |
| 12404862 | DYNLT2B | dynein light chain Tctex-type 2B | ENCODES a protein that exhibits dynein intermediate chain binding (inferred); INVOLVED IN cilium assembly (inferred); intraciliary retrograde transport (inferred); regulation of cilium assembly (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholo g); asphyxiating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary base (inferred) | 33 | 29414484 | 29430439 | Dog | 29 | description | gene, protein-coding, MODEL [RefSeq] |
| 12628341 | Dynlt2b | dynein light chain Tctex-type 2B | ENCODES a protein that exhibits dynein intermediate chain binding (inferred); INVOLVED IN cilium assembly (inferred); intraciliary retrograde transport (inferred); microtubule-based movement (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary base (inferred) | NW_004936784 | 940300 | 954959 | Squirrel | 29 | description | gene, protein-coding, MODEL [RefSeq] |
| 14182405 | DYNLT2B | dynein light chain Tctex-type 2B | ENCODES a protein that exhibits catalytic activity (inferred); choline-phosphate cytidylyltransferase activity (inferred); dynein intermediate chain binding (inferred); INVOLVED IN CDP-choline pathway (inferred); cilium assembly (inferred); intraciliary retrograde transport (inferred); ASSOCIATED WI TH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary base (inferred) | | | | Pig | 40 | description | gene, protein-coding, MODEL [RefSeq] |
| 18551214 | DYNLT2B | dynein light chain Tctex-type 2B | ENCODES a protein that exhibits dynein intermediate chain binding (inferred); INVOLVED IN cilium assembly (inferred); intraciliary retrograde transport (inferred); microtubule-based movement (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary base (inferred) | | | | Green Monkey | 29 | description | gene, protein-coding, MODEL [RefSeq] |
| 18931739 | Dynlt2b | dynein light chain Tctex-type 2B | ENCODES a protein that exhibits dynein intermediate chain binding (inferred); INVOLVED IN cilium assembly (ortholog); intraciliary retrograde transport (ortholog); regulation of cilium assembly (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholo g); asphyxiating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (ortholog); centrosome (ortholog); ciliary base (ortholog) | | | | Naked Mole-Rat | 26 | description | gene, protein-coding, MODEL [RefSeq] |
| 626068800 | Dynlt2b | dynein light chain Tctex-type 2B | ENCODES a protein that exhibits dynein intermediate chain binding (ortholog); INVOLVED IN cilium assembly (ortholog); intraciliary retrograde transport (ortholog); regulation of cilium assembly (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholo g); asphyxiating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (ortholog); centrosome (ortholog); ciliary base (ortholog) | | | | Black Rat | 24 | description | gene, protein-coding, MODEL [RefSeq] |
| 1310417 | Evc2 | EvC ciliary complex subunit 2 | INVOLVED IN smoothened signaling pathway (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); Beemer-Langer syndrome (ortholog); FOUND IN ciliary membrane (ort holog); cilium (ortholog); nucleus (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; bisphenol A | 14 | 77591581 | 77679286 | Rat | 79 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 8780315 | Evc2 | EvC ciliary complex subunit 2 | INVOLVED IN smoothened signaling pathway (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); Beemer-Langer syndrome (ortholog); FOUND IN ciliary membrane (ort holog); cilium (ortholog); nucleus (ortholog) | NW_004955514 | 4332624 | 4430844 | Chinchilla | 20 | description | gene, protein-coding, MODEL [RefSeq] |
| 11961353 | EVC2 | EvC ciliary complex subunit 2 | INVOLVED IN smoothened signaling pathway (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); Beemer-Langer syndrome (ortholog); FOUND IN ciliary membrane (inf erred); cilium (inferred); nucleus (inferred) | | | | Bonobo | 25 | description | gene, protein-coding, MODEL [RefSeq] |
| 12154677 | EVC2 | EvC ciliary complex subunit 2 | INVOLVED IN smoothened signaling pathway (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); Beemer-Langer syndrome (ortholog); FOUND IN ciliary membrane (inf erred); cilium (inferred); nucleus (inferred) | 3 | 70809649 | 70935391 | Dog | 25 | description | gene, protein-coding, MODEL [RefSeq] |
| 12572282 | Evc2 | EvC ciliary complex subunit 2 | INVOLVED IN smoothened signaling pathway (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); Beemer-Langer syndrome (ortholog); FOUND IN ciliary membrane (inf erred); cilium (inferred); nucleus (inferred) | NW_004936477 | 17835479 | 17938014 | Squirrel | 25 | description | gene, protein-coding, MODEL [RefSeq] |
| 14114602 | EVC2 | EvC ciliary complex subunit 2 | INVOLVED IN smoothened signaling pathway (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); Beemer-Langer syndrome (ortholog); FOUND IN ciliary membrane (inf erred); cilium (inferred); nucleus (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 26 | description | gene, protein-coding, MODEL [RefSeq] |
| 18396084 | EVC2 | EvC ciliary complex subunit 2 | INVOLVED IN smoothened signaling pathway (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); Beemer-Langer syndrome (ortholog); FOUND IN ciliary membrane (inf erred); cilium (inferred); nucleus (inferred) | | | | Green Monkey | 25 | description | gene, protein-coding, MODEL [RefSeq] |
| 18919106 | Evc2 | EvC ciliary complex subunit 2 | INVOLVED IN smoothened signaling pathway (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); Beemer-Langer syndrome (ortholog); FOUND IN cilium (ortholog); nu cleus (ortholog) | | | | Naked Mole-Rat | 22 | description | gene, protein-coding, MODEL [RefSeq] |
| 625837861 | Evc2 | EvC ciliary complex subunit 2 | INVOLVED IN smoothened signaling pathway (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); Beemer-Langer syndrome (ortholog); FOUND IN ciliary membrane (ort holog); cilium (ortholog); nucleus (ortholog) | | | | Black Rat | 20 | description | gene, protein-coding, MODEL [RefSeq] |
| 2318759 | Ift140 | intraflagellar transport 140 | INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); embryonic brain development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 ( ortholog); autosomal dominant polycystic kidney disease (ortholog); FOUND IN axoneme (ortholog); centriole (ortholog); centrosome (ortholog); INTERACTS WITH (+)-schisandrin B; 2,3,7,8-tetrachlorodibenzodioxine; endosulfan | 10 | 14537134 | 14624926 | Rat | 153 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8953426 | Ift140 | intraflagellar transport 140 | INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); embryonic brain development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 ( ortholog); autosomal dominant polycystic kidney disease (ortholog); FOUND IN axoneme (ortholog); centriole (ortholog); centrosome (ortholog) | NW_004955442 | 15625429 | 15719006 | Chinchilla | 62 | description | gene, protein-coding, MODEL [RefSeq] |
| 11858246 | IFT140 | intraflagellar transport 140 | INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); embryonic brain development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 ( ortholog); autosomal dominant polycystic kidney disease (ortholog); FOUND IN axoneme (inferred); centriole (inferred); centrosome (inferred) | 16 | 130150 | 232369 | Bonobo | 71 | description | gene, protein-coding, MODEL [RefSeq] |
| 12053847 | IFT140 | intraflagellar transport 140 | INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); embryonic brain development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 ( ortholog); autosomal dominant polycystic kidney disease (ortholog); FOUND IN axoneme (inferred); centriole (inferred); centrosome (inferred) | 6 | 39262887 | 39308912 | Dog | 70 | description | gene, protein-coding, MODEL [RefSeq] |
| 12511409 | Ift140 | intraflagellar transport 140 | INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); embryonic brain development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 ( ortholog); autosomal dominant polycystic kidney disease (ortholog); FOUND IN axoneme (inferred); centriole (inferred); centrosome (inferred) | NW_004936694 | 2344448 | 2419396 | Squirrel | 72 | description | gene, protein-coding, MODEL [RefSeq] |
| 14150880 | IFT140 | intraflagellar transport 140 | INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); embryonic brain development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 ( ortholog); autosomal dominant polycystic kidney disease (ortholog); FOUND IN axoneme (inferred); centriole (inferred); centrosome (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 75 | description | gene, protein-coding, MODEL [RefSeq] |
| 18609845 | IFT140 | intraflagellar transport 140 | INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); embryonic brain development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 ( ortholog); autosomal dominant polycystic kidney disease (ortholog); FOUND IN axoneme (inferred); centriole (inferred); centrosome (inferred) | | | | Green Monkey | 71 | description | gene, protein-coding, MODEL [RefSeq] |
| 18914948 | Ift140 | intraflagellar transport 140 | INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); embryonic brain development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 ( ortholog); autosomal dominant polycystic kidney disease (ortholog); FOUND IN centriole (ortholog); non-motile cilium (ortholog); photoreceptor connecting cilium (ortholog) | | | | Naked Mole-Rat | 65 | description | gene, protein-coding, MODEL [RefSeq] |
| 625954509 | Ift140 | intraflagellar transport 140 | INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); embryonic brain development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 ( ortholog); autosomal dominant polycystic kidney disease (ortholog); FOUND IN axoneme (ortholog); centriole (ortholog); centrosome (ortholog) | | | | Black Rat | 62 | description | gene, protein-coding, MODEL [RefSeq] |
| 620744 | Ift172 | intraflagellar transport 172 | ENCODES a protein that exhibits transcription factor binding; INVOLVED IN negative regulation of transcription by RNA polymerase II; bone development (ortholog); brain development (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxiati ng thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); atrioventricular septal defect (ortholog); FOUND IN cilium (ortholog); intraciliary transport particle A (ortholog); intraciliary transport particle B (ortholog); INTERACTS WITH 2,4-dinitrotoluene; 2,6-dinitrotoluene; acetamide | 6 | 30801841 | 30841239 | Rat | 149 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 9059103 | Ift172 | intraflagellar transport 172 | ENCODES a protein that exhibits transcription factor binding (ortholog); INVOLVED IN bone development (ortholog); brain development (ortholog); cilium assembly (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxiating thoracic dystroph y (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); atrioventricular septal defect (ortholog); FOUND IN cilium (ortholog); intraciliary transport particle A (ortholog); intraciliary transport particle B (ortholog) | NW_004955469 | 9418599 | 9455026 | Chinchilla | 76 | description | gene, protein-coding, MODEL [RefSeq] |
| 11837348 | IFT172 | intraflagellar transport 172 | ENCODES a protein that exhibits transcription factor binding (ortholog); INVOLVED IN bone development (ortholog); brain development (ortholog); cilium assembly (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxiating thoracic dystroph y (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); atrioventricular septal defect (ortholog); FOUND IN axoneme (inferred); ciliary basal body (inferred); cilium (inferred) | 2A | 27448139 | 27492302 | Bonobo | 82 | description | gene, protein-coding, MODEL [RefSeq] |
| 12226249 | IFT172 | intraflagellar transport 172 | ENCODES a protein that exhibits transcription factor binding (ortholog); INVOLVED IN bone development (ortholog); brain development (ortholog); cilium assembly (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxiating thoracic dystroph y (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); atrioventricular septal defect (ortholog); FOUND IN cilium (inferred); intraciliary transport particle A (inferred); intraciliary transport particle B (inferred) | 17 | 21389462 | 21426970 | Dog | 79 | description | gene, protein-coding, MODEL [RefSeq] |
| 12471608 | Ift172 | intraflagellar transport 172 | ENCODES a protein that exhibits transcription factor binding (ortholog); INVOLVED IN bone development (ortholog); brain development (ortholog); cilium assembly (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxiating thoracic dystroph y (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); atrioventricular septal defect (ortholog); FOUND IN axoneme (inferred); ciliary basal body (inferred); cilium (inferred) | NW_004936493 | 5108437 | 5145160 | Squirrel | 79 | description | gene, protein-coding, MODEL [RefSeq] |
| 14212021 | IFT172 | intraflagellar transport 172 | ENCODES a protein that exhibits transcription factor binding (ortholog); INVOLVED IN bone development (ortholog); brain development (ortholog); cilium assembly (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxiating thoracic dystroph y (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); atrioventricular septal defect (ortholog); FOUND IN cilium (inferred); intraciliary transport particle A (inferred); intraciliary transport particle B (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 80 | description | gene, protein-coding, MODEL [RefSeq] |
| 18687540 | IFT172 | intraflagellar transport 172 | ENCODES a protein that exhibits transcription factor binding (ortholog); INVOLVED IN bone development (ortholog); brain development (ortholog); cilium assembly (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxiating thoracic dystroph y (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); atrioventricular septal defect (ortholog); FOUND IN cilium (ortholog); intraciliary transport particle A (ortholog); intraciliary transport particle B (ortholog) | | | | Green Monkey | 76 | description | gene, protein-coding, MODEL [RefSeq] |
| 18924298 | Ift172 | intraflagellar transport 172 | ENCODES a protein that exhibits transcription factor binding (ortholog); INVOLVED IN bone development (ortholog); brain development (ortholog); cilium assembly (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxiating thoracic dystroph y (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); atrioventricular septal defect (ortholog); FOUND IN intraciliary transport particle A (ortholog); sperm cytoplasmic droplet (ortholog); sperm midpiece (ortholog) | | | | Naked Mole-Rat | 78 | description | gene, protein-coding, MODEL [RefSeq] |
| 626137813 | Ift172 | intraflagellar transport 172 | ENCODES a protein that exhibits transcription factor binding (ortholog); INVOLVED IN bone development (ortholog); brain development (ortholog); cilium assembly (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxiating thoracic dystroph y (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); atrioventricular septal defect (ortholog); FOUND IN cilium (ortholog); intraciliary transport particle A (ortholog); intraciliary transport particle B (ortholog) | | | | Black Rat | 76 | description | gene, protein-coding, MODEL [RefSeq] |
| 1312006 | Ift80 | intraflagellar transport 80 | INVOLVED IN apoptotic process (ortholog); articular cartilage development (ortholog); bone development (ortholog); ASSOCIATED WITH Asphyxia (ortholog); asphyxiating thoracic dystrophy (ortholog); asph ;'>asphyxiating thoracic dystrophy 2 (ortholog); FOUND IN 9+0 non-motile cilium (ortholog); centrosome (ortholog); ciliary basal body (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene; bisphenol A | 2 | 155455773 | 155550082 | Rat | 155 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8889531 | Ift80 | intraflagellar transport 80 | INVOLVED IN apoptotic process (ortholog); articular cartilage development (ortholog); bone development (ortholog); ASSOCIATED WITH Asphyxia (ortholog); asphyxiating thoracic dystrophy (ortholog); asph ;'>asphyxiating thoracic dystrophy 2 (ortholog); FOUND IN 9+0 non-motile cilium (ortholog); centrosome (ortholog); ciliary basal body (ortholog) | NW_004955448 | 10808940 | 10819655 | Chinchilla | 79 | description | gene, protein-coding, MODEL [RefSeq] |
| 11705017 | IFT80 | intraflagellar transport 80 | INVOLVED IN apoptotic process (ortholog); articular cartilage development (ortholog); bone development (ortholog); ASSOCIATED WITH Asphyxia (ortholog); asphyxiating thoracic dystrophy (ortholog); asph ;'>asphyxiating thoracic dystrophy 2 (ortholog); FOUND IN 9+0 non-motile cilium (inferred); axoneme (inferred); centrosome (inferred) | 3 | 157279076 | 157421478 | Bonobo | 85 | description | gene, protein-coding, MODEL [RefSeq] |
| 12135114 | IFT80 | intraflagellar transport 80 | INVOLVED IN apoptotic process (ortholog); articular cartilage development (ortholog); bone development (ortholog); ASSOCIATED WITH Asphyxia (ortholog); asphyxiating thoracic dystrophy (ortholog); asph ;'>asphyxiating thoracic dystrophy 2 (ortholog); FOUND IN 9+0 non-motile cilium (inferred); axoneme (inferred); centrosome (inferred) | 34 | 26332456 | 26455428 | Dog | 86 | description | gene, protein-coding, MODEL [RefSeq] |
| 12491504 | Ift80 | intraflagellar transport 80 | INVOLVED IN apoptotic process (ortholog); articular cartilage development (ortholog); bone development (ortholog); ASSOCIATED WITH Asphyxia (ortholog); asphyxiating thoracic dystrophy (ortholog); asph ;'>asphyxiating thoracic dystrophy 2 (ortholog); FOUND IN 9+0 non-motile cilium (inferred); axoneme (inferred); centrosome (inferred) | NW_004936708 | 238302 | 362537 | Squirrel | 85 | description | gene, protein-coding, MODEL [RefSeq] |
| 13878359 | IFT80 | intraflagellar transport 80 | INVOLVED IN apoptotic process (ortholog); articular cartilage development (ortholog); bone development (ortholog); ASSOCIATED WITH Asphyxia (ortholog); asphyxiating thoracic dystrophy (ortholog); asph ;'>asphyxiating thoracic dystrophy 2 (ortholog); FOUND IN 9+0 non-motile cilium (inferred); axoneme (inferred); centrosome (inferred) | | | | Pig | 86 | description | gene, protein-coding, MODEL [RefSeq] |
| 18541994 | IFT80 | intraflagellar transport 80 | INVOLVED IN apoptotic process (ortholog); articular cartilage development (ortholog); bone development (ortholog); ASSOCIATED WITH Asphyxia (ortholog); asphyxiating thoracic dystrophy (ortholog); asph ;'>asphyxiating thoracic dystrophy 2 (ortholog); FOUND IN 9+0 non-motile cilium (inferred); axoneme (inferred); centrosome (inferred) | | | | Green Monkey | 85 | description | gene, protein-coding, MODEL [RefSeq] |
| 18918569 | Ift80 | intraflagellar transport 80 | INVOLVED IN apoptotic process (ortholog); articular cartilage development (ortholog); bone development (ortholog); ASSOCIATED WITH Asphyxia (ortholog); asphyxiating thoracic dystrophy (ortholog); asph ;'>asphyxiating thoracic dystrophy 2 (ortholog); FOUND IN 9+0 non-motile cilium (ortholog); ciliary basal body (ortholog) | | | | Naked Mole-Rat | 82 | description | gene, protein-coding, MODEL [RefSeq] |
| 626068170 | Ift80 | intraflagellar transport 80 | INVOLVED IN apoptotic process (ortholog); articular cartilage development (ortholog); bone development (ortholog); ASSOCIATED WITH Asphyxia (ortholog); asphyxiating thoracic dystrophy (ortholog); asph ;'>asphyxiating thoracic dystrophy 2 (ortholog); FOUND IN 9+0 non-motile cilium (ortholog); centrosome (ortholog); ciliary basal body (ortholog) | | | | Black Rat | 74 | description | gene, protein-coding, MODEL [RefSeq] |
| 620813 | Lbr | lamin B receptor | ENCODES a protein that exhibits nuclear localization sequence binding; protein-folding chaperone binding; chromatin-protein adaptor activity (ortholog); INVOLVED IN cholesterol biosynthetic process (ortholog); cholesterol biosynthetic process via desmosterol (ortholog); neutrophil differentiation (o rtholog); PARTICIPATES IN cholesterol biosynthetic pathway; histone modification pathway; ASSOCIATED WITH Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia (ortholog); asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); FOUND IN nuclear envelope; nuclear pore; cytoplasm (ortholog); INTERACTS WITH 3,3',4,4',5-pentachlorobiphenyl; acetamide; ammonium chloride | 13 | 96071058 | 96095709 | Rat | 212 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8732812 | Lbr | lamin B receptor | ENCODES a protein that exhibits chromatin-protein adaptor activity (ortholog); chromo shadow domain binding (ortholog); Delta14-sterol reductase activity (ortholog); INVOLVED IN cholesterol biosynthetic process (ortholog); cholesterol biosynthetic process via desmosterol (ortholog); neutrophil diffe rentiation (ortholog); PARTICIPATES IN cholesterol biosynthetic pathway; histone modification pathway; ASSOCIATED WITH Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia (ortholog); asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); FOUND IN cytoplasm (ortholog); endoplasmic reticulum membrane (ortholog); membrane (ortholog) | NW_004955520 | 401733 | 418279 | Chinchilla | 62 | description | gene, protein-coding, MODEL [RefSeq] |
| 11901808 | LBR | lamin B receptor | ENCODES a protein that exhibits nuclear localization sequence binding (ortholog); protein-folding chaperone binding (ortholog); INVOLVED IN cholesterol biosynthetic process (inferred); cholesterol biosynthetic process via desmosterol (inferred); cholesterol metabolic process (inferred); PARTICIPATES IN cholesterol biosynthetic pathway; histone modification pathway; ASSOCIATED WITH Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia (ortholog); asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); FOUND IN nuclear envelope (ortholog); nuclear pore (ortholog) | 1 | 200865602 | 200892199 | Bonobo | 80 | description | gene, protein-coding, MODEL [RefSeq] |
| 12371664 | LBR | lamin B receptor | ENCODES a protein that exhibits nuclear localization sequence binding (ortholog); protein-folding chaperone binding (ortholog); INVOLVED IN cholesterol biosynthetic process (inferred); cholesterol biosynthetic process via desmosterol (inferred); cholesterol metabolic process (inferred); PARTICIPATES IN cholesterol biosynthetic pathway; histone modification pathway; ASSOCIATED WITH Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia (ortholog); asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); FOUND IN nuclear envelope (ortholog); nuclear pore (ortholog) | 7 | 39289517 | 39309026 | Dog | 78 | description | gene, protein-coding, MODEL [RefSeq] |
| 12703949 | Lbr | lamin B receptor | ENCODES a protein that exhibits nuclear localization sequence binding (ortholog); protein-folding chaperone binding (ortholog); INVOLVED IN cholesterol biosynthetic process (inferred); cholesterol biosynthetic process via desmosterol (inferred); cholesterol metabolic process (inferred); PARTICIPATES IN cholesterol biosynthetic pathway; histone modification pathway; ASSOCIATED WITH Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia (ortholog); asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); FOUND IN nuclear envelope (ortholog); nuclear pore (ortholog) | NW_004936526 | 2254463 | 2282785 | Squirrel | 80 | description | gene, protein-coding, MODEL [RefSeq] |
| 13917074 | LBR | lamin B receptor | ENCODES a protein that exhibits nuclear localization sequence binding (ortholog); protein-folding chaperone binding (ortholog); INVOLVED IN cholesterol biosynthetic process (inferred); cholesterol biosynthetic process via desmosterol (inferred); cholesterol metabolic process (inferred); PARTICIPATES IN cholesterol biosynthetic pathway; histone modification pathway; ASSOCIATED WITH Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia (ortholog); asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); FOUND IN nuclear envelope (ortholog); nuclear pore (ortholog) | | | | Pig | 78 | description | gene, protein-coding, MODEL [RefSeq] |
| 18688461 | LBR | lamin B receptor | ENCODES a protein that exhibits nuclear localization sequence binding (ortholog); protein-folding chaperone binding (ortholog); INVOLVED IN cholesterol biosynthetic process (inferred); cholesterol biosynthetic process via desmosterol (inferred); cholesterol metabolic process (inferred); PARTICIPATES IN cholesterol biosynthetic pathway; histone modification pathway; ASSOCIATED WITH Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia (ortholog); asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); FOUND IN nuclear envelope (ortholog); nuclear pore (ortholog) | | | | Green Monkey | 80 | description | gene, protein-coding, MODEL [RefSeq] |
| 18903694 | Lbr | lamin B receptor | ENCODES a protein that exhibits chromatin-protein adaptor activity (ortholog); chromo shadow domain binding (ortholog); NADPH binding (ortholog); INVOLVED IN cholesterol biosynthetic process via desmosterol (ortholog); neutrophil differentiation (ortholog); random inactivation of X chromosome (ortho log); PARTICIPATES IN cholesterol biosynthetic pathway; histone modification pathway; ASSOCIATED WITH Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia (ortholog); asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); FOUND IN nuclear envelope (ortholog); nuclear inner membrane (ortholog); nuclear lamina (ortholog) | | | | Naked Mole-Rat | 75 | description | gene, protein-coding, MODEL [RefSeq] |
| 625939972 | Lbr | lamin B receptor | ENCODES a protein that exhibits chromatin-protein adaptor activity (ortholog); chromo shadow domain binding (ortholog); Delta14-sterol reductase activity (ortholog); INVOLVED IN cholesterol biosynthetic process (ortholog); cholesterol biosynthetic process via desmosterol (ortholog); neutrophil diffe rentiation (ortholog); PARTICIPATES IN cholesterol biosynthetic pathway; histone modification pathway; ASSOCIATED WITH Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia (ortholog); asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); FOUND IN cytoplasm (ortholog); endoplasmic reticulum membrane (ortholog); membrane (ortholog) | | | | Black Rat | 62 | description | gene, protein-coding, MODEL [RefSeq] |
| 1305058 | Rab34 | RAB34, member RAS oncogene family | ENCODES a protein that exhibits G protein activity (ortholog); GTP-dependent protein binding (ortholog); GTPase activity (ortholog); INVOLVED IN cellular response to glucose stimulus; positive regulation of protein secretion; antigen processing and presentation (ortholog); ASSOCIATED WITH asph e='font-weight:700;'>asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); orofaciodigital syndrome XX (ortholog); FOUND IN centriole (ortholog); centrosome (ortholog); cytoplasmic vesicle (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 3-chloropropane-1,2-diol | 10 | 63581542 | 63585608 | Rat | 167 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 8813111 | Rab34 | RAB34, member RAS oncogene family | ENCODES a protein that exhibits G protein activity (ortholog); GTP-dependent protein binding (ortholog); GTPase activity (ortholog); INVOLVED IN antigen processing and presentation (ortholog); cellular response to glucose stimulus (ortholog); cilium assembly (ortholog); ASSOCIATED WITH asph font-weight:700;'>asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); orofaciodigital syndrome XX (ortholog); FOUND IN centriole (ortholog); centrosome (ortholog); cilium (ortholog) | NW_004955481 | 4441290 | 4445969 | Chinchilla | 48 | description | gene, protein-coding, MODEL [RefSeq] |
| 11812286 | RAB34 | RAB34, member RAS oncogene family | ENCODES a protein that exhibits G protein activity (ortholog); GTP-dependent protein binding (ortholog); guanyl nucleotide binding (ortholog); INVOLVED IN antigen processing and presentation (ortholog); cellular response to glucose stimulus (ortholog); cilium assembly (ortholog); ASSOCIATED WITH ... (more) an style='font-weight:700;'>asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); orofaciodigital syndrome XX (ortholog); FOUND IN centrosome (ortholog); early endosome (ortholog); Golgi cisterna (ortholog) | 17 | 28057077 | 28061234 | Bonobo | 57 | description | gene, protein-coding, MODEL [RefSeq] |
| 12266080 | RAB34 | RAB34, member RAS oncogene family | ENCODES a protein that exhibits G protein activity (ortholog); guanyl nucleotide binding (ortholog); INVOLVED IN cellular response to glucose stimulus (ortholog); cytosolic ciliogenesis (ortholog); endocytosis (ortholog); ASSOCIATED WITH asphyxiating thoracic dy strophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); orofaciodigital syndrome XX (ortholog); FOUND IN early endosome (ortholog); late endosome (ortholog); ruffle (ortholog) | 9 | 42909843 | 42913935 | Dog | 60 | description | gene, protein-coding, MODEL [RefSeq] |
| 12494107 | Rab34 | RAB34, member RAS oncogene family | ENCODES a protein that exhibits G protein activity (ortholog); guanyl nucleotide binding (ortholog); INVOLVED IN cellular response to glucose stimulus (ortholog); cytosolic ciliogenesis (ortholog); endocytosis (ortholog); ASSOCIATED WITH asphyxiating thoracic dy strophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); orofaciodigital syndrome XX (ortholog); FOUND IN early endosome (ortholog); late endosome (ortholog); ruffle (ortholog) | NW_004936538 | 4923740 | 4928798 | Squirrel | 54 | description | gene, protein-coding, MODEL [RefSeq] |
| 14101187 | RAB34 | RAB34, member RAS oncogene family | ENCODES a protein that exhibits G protein activity (ortholog); guanyl nucleotide binding (ortholog); INVOLVED IN cellular response to glucose stimulus (ortholog); cilium assembly (ortholog); cytosolic ciliogenesis (ortholog); ASSOCIATED WITH asphyxiating thoraci c dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); orofaciodigital syndrome XX (ortholog); FOUND IN centriole (ortholog); early endosome (ortholog); late endosome (ortholog) | | | | Pig | 69 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 18652577 | RAB34 | RAB34, member RAS oncogene family | ENCODES a protein that exhibits G protein activity (ortholog); guanyl nucleotide binding (ortholog); INVOLVED IN cellular response to glucose stimulus (ortholog); cytosolic ciliogenesis (ortholog); endocytosis (ortholog); ASSOCIATED WITH asphyxiating thoracic dy strophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); orofaciodigital syndrome XX (ortholog); FOUND IN early endosome (ortholog); late endosome (ortholog); ruffle (ortholog) | | | | Green Monkey | 54 | description | gene, protein-coding, MODEL [RefSeq] |
| 18900109 | Rab34 | RAB34, member RAS oncogene family | ENCODES a protein that exhibits G protein activity (ortholog); GTP-dependent protein binding (ortholog); guanyl nucleotide binding (ortholog); INVOLVED IN antigen processing and presentation (ortholog); cellular response to glucose stimulus (ortholog); cilium assembly (ortholog); ASSOCIATED WITH ... (more) an style='font-weight:700;'>asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); orofaciodigital syndrome XX (ortholog); FOUND IN centrosome (ortholog); early endosome (ortholog); Golgi cisterna (ortholog) | | | | Naked Mole-Rat | 56 | description | gene, protein-coding, MODEL [RefSeq] |
| 625970481 | Rab34 | RAB34, member RAS oncogene family | ENCODES a protein that exhibits G protein activity (ortholog); GTP-dependent protein binding (ortholog); GTPase activity (ortholog); INVOLVED IN antigen processing and presentation (ortholog); cellular response to glucose stimulus (ortholog); cilium assembly (ortholog); ASSOCIATED WITH asph font-weight:700;'>asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); orofaciodigital syndrome XX (ortholog); FOUND IN centriole (ortholog); centrosome (ortholog); cilium (ortholog) | | | | Black Rat | 48 | description | gene, protein-coding, MODEL [RefSeq] |
| 8925626 | Fam98c | family with sequence similarity 98 member C | ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); autism spectrum disorder (ortholog) | NW_004955468 | 1021711 | 1025566 | Chinchilla | 3 | description | gene, protein-coding, MODEL [RefSeq] |
| 18521688 | FAM98C | family with sequence similarity 98 member C | ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); autism spectrum disorder (ortholog) | | | | Green Monkey | 3 | description | gene, protein-coding, MODEL [RefSeq] |
| 625896627 | Fam98c | family with sequence similarity 98 member C | ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); autism spectrum disorder (ortholog) | | | | Black Rat | 3 | description | gene, protein-coding, MODEL [RefSeq] |
| 1312340 | 4933427D14Rik | RIKEN cDNA 4933427D14 gene | Predicted to be involved in cytosolic ciliogenesis and protein localization to centrosome. Predicted to be located in centrosome and cytosol. Predicted to be active in centriolar satellite. Is expressed in several structures, including alimentary system; brain; egg cylinder; genitourinary system; an d hemolymphoid system gland. Human ortholog(s) of this gene implicated in Joubert syndrome; asphyxiating thoracic dystrophy; and orofaciodigital syndrome. Orthologous to human KIAA0753 (KIAA0753). [provided by Alliance of Genome Resources, Apr 2025] | 11 | 72044755 | 72098308 | Mouse | 63 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1304728 | 4933427D14Rikl | RIKEN cDNA 4933427D14 gene like | INVOLVED IN cilium assembly (ortholog); cytosolic ciliogenesis (ortholog); protein localization to centrosome (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN centriolar satellite (ortholog); centrosome (ortholog); INTERACTS WITH bisphenol A; gentamycin; paracetamol | 10 | 57282433 | 57331259 | Rat | 57 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1305522 | B9d1 | B9 domain containing 1 | ENCODES a protein that exhibits hedgehog receptor activity (ortholog); INVOLVED IN camera-type eye development (ortholog); cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); ciliopath y (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN centrosome (ortholog); ciliary basal body (ortholog); ciliary transition zone (ortholog); INTERACTS WITH 1-naphthyl isothiocyanate; 4,4'-diaminodiphenylmethane; 4,4'-sulfonyldiphenol | 10 | 46685410 | 46698580 | Rat | 132 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 8723885 | B9d1 | B9 domain containing 1 | ENCODES a protein that exhibits hedgehog receptor activity (ortholog); INVOLVED IN camera-type eye development (ortholog); cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); ciliopath y (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN centrosome (ortholog); ciliary basal body (ortholog); ciliary transition zone (ortholog) | NW_004955467 | 405487 | 415887 | Chinchilla | 41 | description | gene, protein-coding, MODEL [RefSeq] |
| 11739598 | B9D1 | B9 domain containing 1 | ENCODES a protein that exhibits hedgehog receptor activity (inferred); INVOLVED IN camera-type eye development (ortholog); cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); ciliopath y (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN centrosome (inferred); ciliary basal body (inferred); ciliary transition zone (inferred) | 17 | 31735065 | 31779454 | Bonobo | 45 | description | gene, protein-coding, MODEL [RefSeq] |
| 12252986 | B9D1 | B9 domain containing 1 | ENCODES a protein that exhibits hedgehog receptor activity (ortholog); INVOLVED IN camera-type eye development (ortholog); cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); ciliopath y (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN centrosome (ortholog); ciliary basal body (ortholog); ciliary transition zone (ortholog) | 5 | 40854110 | 40866828 | Dog | 43 | description | gene, protein-coding, MODEL [RefSeq] |
| 12597957 | B9d1 | B9 domain containing 1 | ENCODES a protein that exhibits hedgehog receptor activity (inferred); INVOLVED IN camera-type eye development (ortholog); cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); ciliopath y (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN centrosome (inferred); ciliary basal body (inferred); ciliary transition zone (inferred) | NW_004936881 | 396930 | 411059 | Squirrel | 45 | description | gene, protein-coding, MODEL [RefSeq] |
| 13925164 | B9D1 | B9 domain containing 1 | ENCODES a protein that exhibits hedgehog receptor activity (inferred); INVOLVED IN camera-type eye development (ortholog); cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); ciliopath y (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN centrosome (inferred); ciliary basal body (inferred); ciliary transition zone (inferred) | | | | Pig | 45 | description | gene, protein-coding, MODEL [RefSeq] |
| 18663502 | B9D1 | B9 domain containing 1 | ENCODES a protein that exhibits hedgehog receptor activity (inferred); INVOLVED IN camera-type eye development (ortholog); cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); ciliopath y (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN centrosome (inferred); ciliary basal body (inferred); ciliary transition zone (inferred) | | | | Green Monkey | 45 | description | gene, protein-coding, MODEL [RefSeq] |
| 18915149 | B9d1 | B9 domain containing 1 | ENCODES a protein that exhibits hedgehog receptor activity (inferred); INVOLVED IN camera-type eye development (ortholog); cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); ciliopath y (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN centrosome (inferred); ciliary basal body (inferred); ciliary transition zone (inferred) | | | | Naked Mole-Rat | 45 | description | gene, protein-coding, MODEL [RefSeq] |
| 8931988 | Bag3 | BAG cochaperone 3 | ENCODES a protein that exhibits adenyl-nucleotide exchange factor activity (ortholog); protein-containing complex binding (ortholog); protein-folding chaperone binding (ortholog); INVOLVED IN autophagosome assembly (ortholog); cellular response to heat (ortholog); cellular response to mechanical sti mulus (ortholog); ASSOCIATED WITH arrhythmogenic right ventricular cardiomyopathy (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); atrial fibrillation (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); nucleoplasm (ortholog) | NW_004955551 | 446322 | 468329 | Chinchilla | 96 | description | gene, protein-coding, MODEL [RefSeq] |
| 11986394 | BAG3 | BAG cochaperone 3 | ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN autophagosome assembly (ortholog); cellular response to mechanical stimulus (ortholog); chaperone-mediated autophagy (ortholog); ASSOCIATED WITH arrhythmogenic right ventricular cardiomyopathy (ortholog); ... (more) n style='font-weight:700;'>asphyxiating thoracic dystrophy 3 (ortholog); atrial fibrillation (ortholog); FOUND IN stress fiber (ortholog) | 10 | 116221747 | 116248692 | Bonobo | 104 | description | gene, protein-coding, MODEL [RefSeq] |
| 12378668 | BAG3 | BAG cochaperone 3 | ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN autophagosome assembly (ortholog); cellular response to mechanical stimulus (ortholog); chaperone-mediated autophagy (ortholog); ASSOCIATED WITH arrhythmogenic right ventricular cardiomyopathy (ortholog); ... (more) n style='font-weight:700;'>asphyxiating thoracic dystrophy 3 (ortholog); atrial fibrillation (ortholog); FOUND IN stress fiber (ortholog) | 28 | 29792612 | 29815466 | Dog | 103 | description | gene, protein-coding, MODEL [RefSeq] |
| 12597267 | Bag3 | BAG cochaperone 3 | ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN autophagosome assembly (ortholog); cellular response to mechanical stimulus (ortholog); chaperone-mediated autophagy (ortholog); ASSOCIATED WITH arrhythmogenic right ventricular cardiomyopathy (ortholog); ... (more) n style='font-weight:700;'>asphyxiating thoracic dystrophy 3 (ortholog); atrial fibrillation (ortholog); FOUND IN stress fiber (ortholog) | NW_004936486 | 8985871 | 9007461 | Squirrel | 112 | description | gene, protein-coding, MODEL [RefSeq] |
| 14297304 | BAG3 | BAG cochaperone 3 | ENCODES a protein that exhibits adenyl-nucleotide exchange factor activity (ortholog); protein-containing complex binding (ortholog); protein-macromolecule adaptor activity (ortholog); INVOLVED IN autophagosome assembly (ortholog); cellular response to heat (ortholog); cellular response to mechanica l stimulus (ortholog); ASSOCIATED WITH arrhythmogenic right ventricular cardiomyopathy (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); atrial fibrillation (ortholog); FOUND IN cytosol (ortholog); nucleoplasm (ortholog); protein folding chaperone complex (ortholog); INTERACTS WITH deoxynivalenol | | | | Pig | 98 | description | gene, protein-coding, MODEL [RefSeq] |
| 18436395 | BAG3 | BAG cochaperone 3 | ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN autophagosome assembly (ortholog); cellular response to mechanical stimulus (ortholog); chaperone-mediated autophagy (ortholog); ASSOCIATED WITH arrhythmogenic right ventricular cardiomyopathy (ortholog); ... (more) n style='font-weight:700;'>asphyxiating thoracic dystrophy 3 (ortholog); atrial fibrillation (ortholog); FOUND IN stress fiber (ortholog) | | | | Green Monkey | 112 | description | gene, protein-coding, MODEL [RefSeq] |
| 18920860 | Bag3 | BAG cochaperone 3 | ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN autophagosome assembly (ortholog); cellular response to mechanical stimulus (ortholog); chaperone-mediated autophagy (ortholog); ASSOCIATED WITH arrhythmogenic right ventricular cardiomyopathy (ortholog); ... (more) n style='font-weight:700;'>asphyxiating thoracic dystrophy 3 (ortholog); atrial fibrillation (ortholog); FOUND IN stress fiber (ortholog) | | | | Naked Mole-Rat | 112 | description | gene, protein-coding, MODEL [RefSeq] |
| 625913294 | Bag3 | BAG cochaperone 3 | ENCODES a protein that exhibits adenyl-nucleotide exchange factor activity (ortholog); protein-containing complex binding (ortholog); protein-folding chaperone binding (ortholog); INVOLVED IN autophagosome assembly (ortholog); cellular response to heat (ortholog); cellular response to mechanical sti mulus (ortholog); ASSOCIATED WITH arrhythmogenic right ventricular cardiomyopathy (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); atrial fibrillation (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); nucleoplasm (ortholog) | | | | Black Rat | 86 | description | gene, protein-coding, MODEL [RefSeq] |
| 1307366 | C2cd3 | C2 domain containing 3 centriole elongation regulator | INVOLVED IN brain development (ortholog); centriole elongation (ortholog); cilium assembly (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); FOUND IN centriolar satellit e (ortholog); centriole (ortholog); centrosome (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; bisphenol A; cocaine | 1 | 164127304 | 164225088 | Rat | 97 | description | gene, protein-coding, INFERRED [RefSeq] |
| 8892110 | C2cd3 | C2 domain containing 3 centriole elongation regulator | INVOLVED IN brain development (ortholog); centriole elongation (ortholog); cilium assembly (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); FOUND IN centriolar satellit e (ortholog); centriole (ortholog); centrosome (ortholog) | NW_004955414 | 17444299 | 17557912 | Chinchilla | 35 | description | gene, protein-coding, MODEL [RefSeq] |
| 11755790 | C2CD3 | C2 domain containing 3 centriole elongation regulator | INVOLVED IN brain development (ortholog); cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); FOUND IN centrosome (ortholog) | 11 | 69085434 | 69244791 | Bonobo | 43 | description | gene, protein-coding, MODEL [RefSeq] |
| 12309330 | C2CD3 | C2 domain containing 3 centriole elongation regulator | INVOLVED IN cell projection organization (inferred); centriole elongation (inferred); cilium assembly (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); FOUND IN centriol ar satellite (inferred); centriole (inferred); centrosome (inferred) | 21 | 24127390 | 24272473 | Dog | 29 | description | gene, protein-coding, MODEL [RefSeq] |
| 12438446 | C2cd3 | C2 domain containing 3 centriole elongation regulator | INVOLVED IN brain development (ortholog); cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); FOUND IN centriolar satellite (inferred); centriole (inferred); centrosome (inferred) | NW_004936498 | 3099419 | 3242334 | Squirrel | 44 | description | gene, protein-coding, MODEL [RefSeq] |
| 13876047 | C2CD3 | C2 domain containing 3 centriole elongation regulator | INVOLVED IN brain development (ortholog); cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); FOUND IN centriolar satellite (inferred); centriole (inferred); centrosome (inferred) | | | | Pig | 44 | description | gene, protein-coding, MODEL [RefSeq] |
| 18370121 | C2CD3 | C2 domain containing 3 centriole elongation regulator | INVOLVED IN brain development (ortholog); cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); FOUND IN centriolar satellite (inferred); centriole (inferred); centrosome (inferred) | | | | Green Monkey | 44 | description | gene, protein-coding, MODEL [RefSeq] |
| 18927302 | C2cd3 | C2 domain containing 3 centriole elongation regulator | INVOLVED IN brain development (ortholog); cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); FOUND IN centrosome (ortholog); ciliary basal body (ortholog) | | | | Naked Mole-Rat | 45 | description | gene, protein-coding, MODEL [RefSeq] |
| 626071639 | C2cd3 | C2 domain containing 3 centriole elongation regulator | INVOLVED IN brain development (ortholog); centriole elongation (ortholog); cilium assembly (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); FOUND IN centriolar satellit e (ortholog); centriole (ortholog); centrosome (ortholog) | | | | Black Rat | 35 | description | gene, protein-coding, MODEL [RefSeq] |
| 1565619 | Cep120 | centrosomal protein 120 | INVOLVED IN astral microtubule organization (ortholog); cell population proliferation (ortholog); centrosome cycle (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); familial erythrocytosis 2 (ortholog); FOUN D IN centriole (ortholog); centrosome (ortholog); INTERACTS WITH amphetamine; bisphenol A; methoxychlor | 18 | 49326266 | 49388380 | Rat | 93 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8919619 | Cep120 | centrosomal protein 120 | INVOLVED IN astral microtubule organization (ortholog); cell population proliferation (ortholog); centrosome cycle (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); familial erythrocytosis 2 (ortholog); FOUN D IN centriole (ortholog); centrosome (ortholog) | NW_004955521 | 1452514 | 1504763 | Chinchilla | 28 | description | gene, protein-coding, MODEL [RefSeq] |
| 12035726 | CEP120 | centrosomal protein 120 | INVOLVED IN astral microtubule organization (ortholog); cell population proliferation (ortholog); cerebral cortex development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); familial erythrocytosis 2 (orth olog); FOUND IN centriole (inferred); centrosome (inferred); microtubule organizing center (inferred) | 5 | 118736158 | 118815194 | Bonobo | 37 | description | gene, protein-coding, MODEL [RefSeq] |
| 12152777 | CEP120 | centrosomal protein 120 | INVOLVED IN astral microtubule organization (ortholog); cell population proliferation (ortholog); cerebral cortex development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); familial erythrocytosis 2 (orth olog); FOUND IN centriole (inferred); centrosome (inferred) | 11 | 13184590 | 13306975 | Dog | 35 | description | gene, protein-coding, MODEL [RefSeq] |
| 12589840 | Cep120 | centrosomal protein 120 | INVOLVED IN astral microtubule organization (ortholog); cell population proliferation (ortholog); cerebral cortex development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); familial erythrocytosis 2 (orth olog); FOUND IN centriole (inferred); centrosome (inferred); microtubule organizing center (inferred) | NW_004936575 | 3695473 | 3770522 | Squirrel | 37 | description | gene, protein-coding, MODEL [RefSeq] |
| 13845531 | CEP120 | centrosomal protein 120 | INVOLVED IN astral microtubule organization (ortholog); cell population proliferation (ortholog); cerebral cortex development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); familial erythrocytosis 2 (orth olog); FOUND IN centriole (inferred); centrosome (inferred) | | | | Pig | 35 | description | gene, protein-coding, MODEL [RefSeq] |
| 18772591 | CEP120 | centrosomal protein 120 | INVOLVED IN astral microtubule organization (ortholog); cell population proliferation (ortholog); cerebral cortex development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); familial erythrocytosis 2 (orth olog); FOUND IN centriole (inferred); centrosome (inferred); microtubule organizing center (inferred) | | | | Green Monkey | 37 | description | gene, protein-coding, MODEL [RefSeq] |
| 18934821 | Cep120 | centrosomal protein 120 | INVOLVED IN astral microtubule organization (ortholog); cell population proliferation (ortholog); cerebral cortex development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); familial erythrocytosis 2 (orth olog); FOUND IN centriole (inferred); centrosome (inferred); microtubule organizing center (inferred) | | | | Naked Mole-Rat | 37 | description | gene, protein-coding, MODEL [RefSeq] |
| 626098657 | Cep120 | centrosomal protein 120 | INVOLVED IN astral microtubule organization (ortholog); cell population proliferation (ortholog); centrosome cycle (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); familial erythrocytosis 2 (ortholog); FOUN D IN centriole (ortholog); centrosome (ortholog) | | | | Black Rat | 28 | description | gene, protein-coding, MODEL [RefSeq] |
| 1305974 | Cers1 | ceramide synthase 1 | ENCODES a protein that exhibits N-acyltransferase activity (ortholog); sphingosine N-acyltransferase activity (ortholog); INVOLVED IN brain development (ortholog); cellular response to dithiothreitol (ortholog); cellular response to mycotoxin (ortholog); ASSOCIATED WITH Perinatal Asph eight:700;'>Asphyxia; cerebellar ataxia (ortholog); Insulin Resistance (ortholog); FOUND IN endoplasmic reticulum (ortholog); INTERACTS WITH acrylamide; bisphenol A; furan | 16 | 19131271 | 19146480 | Rat | 74 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1309131 | Cert1 | ceramide transporter 1 | ENCODES a protein that exhibits ceramide binding (ortholog); ceramide transfer activity (ortholog); kinase activity (ortholog); INVOLVED IN cell morphogenesis (ortholog); cell population proliferation (ortholog); ceramide metabolic process (ortholog); ASSOCIATED WITH Perinatal Asph ht:700;'>Asphyxia; autosomal dominant intellectual developmental disorder 34 (ortholog); epilepsy (ortholog); FOUND IN cytosol (ortholog); endoplasmic reticulum-trans-Golgi network membrane contact site (ortholog); Golgi apparatus (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene; 4,4'-sulfonyldiphenol | 2 | 29617202 | 29721734 | Rat | 157 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 71050 | Cilk1 | ciliogenesis associated kinase 1 | ENCODES a protein that exhibits ATP binding; protein serine/threonine kinase activity; magnesium ion binding (ortholog); INVOLVED IN intracellular signal transduction; protein phosphorylation; cilium assembly (ortholog); ASSOCIATED WITH asphyxiating thoracic dys trophy (ortholog); coloboma (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN cytoplasm; ciliary basal body (ortholog); ciliary base (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,4,6-trinitrotoluene; 2,6-dinitrotoluene | 8 | 87868294 | 87922995 | Rat | 170 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 8754892 | Cilk1 | ciliogenesis associated kinase 1 | ENCODES a protein that exhibits ATP binding (ortholog); magnesium ion binding (ortholog); protein kinase activity (ortholog); INVOLVED IN cilium assembly (ortholog); intracellular signal transduction (ortholog); intraciliary anterograde transport (ortholog); ASSOCIATED WITH asph 700;'>asphyxiating thoracic dystrophy (ortholog); coloboma (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN ciliary basal body (ortholog); ciliary base (ortholog); ciliary tip (ortholog) | NW_004955411 | 2997726 | 3065106 | Chinchilla | 42 | description | gene, protein-coding, MODEL [RefSeq] |
| 11872431 | CILK1 | ciliogenesis associated kinase 1 | ENCODES a protein that exhibits ATP binding (inferred); kinase activity (inferred); magnesium ion binding (inferred); INVOLVED IN protein phosphorylation (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); coloboma (ortholog); cranioectoderma l dysplasia (ortholog); FOUND IN cytoplasm (ortholog) | 6 | 52556272 | 52617199 | Bonobo | 47 | description | gene, protein-coding, MODEL [RefSeq] |
| 12377973 | CILK1 | ciliogenesis associated kinase 1 | ENCODES a protein that exhibits ATP binding (inferred); kinase activity (inferred); magnesium ion binding (inferred); INVOLVED IN protein phosphorylation (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); coloboma (ortholog); cranioectoderma l dysplasia (ortholog); FOUND IN cytoplasm (ortholog); INTERACTS WITH bisphenol A | 12 | 20453322 | 20511463 | Dog | 55 | description | gene, protein-coding, MODEL [RefSeq] |
| 12639573 | Cilk1 | ciliogenesis associated kinase 1 | ENCODES a protein that exhibits ATP binding (inferred); kinase activity (inferred); magnesium ion binding (inferred); INVOLVED IN protein phosphorylation (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); coloboma (ortholog); cranioectoderma l dysplasia (ortholog); FOUND IN cytoplasm (ortholog) | NW_004936476 | 7830714 | 7869533 | Squirrel | 47 | description | gene, protein-coding, MODEL [RefSeq] |
| 13899766 | CILK1 | ciliogenesis associated kinase 1 | ENCODES a protein that exhibits ATP binding (inferred); kinase activity (inferred); magnesium ion binding (inferred); INVOLVED IN protein phosphorylation (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); coloboma (ortholog); cranioectoderma l dysplasia (ortholog); FOUND IN cytoplasm (ortholog) | | | | Pig | 54 | description | gene, protein-coding, MODEL [RefSeq] |
| 18736213 | CILK1 | ciliogenesis associated kinase 1 | ENCODES a protein that exhibits ATP binding (inferred); kinase activity (inferred); magnesium ion binding (inferred); INVOLVED IN protein phosphorylation (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); coloboma (ortholog); cranioectoderma l dysplasia (ortholog); FOUND IN cytoplasm (ortholog) | | | | Green Monkey | 47 | description | gene, protein-coding, MODEL [RefSeq] |
| 18906701 | Cilk1 | ciliogenesis associated kinase 1 | ENCODES a protein that exhibits magnesium ion binding (ortholog); INVOLVED IN cilium assembly (ortholog); intracellular signal transduction (ortholog); intraciliary anterograde transport (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); col oboma (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN ciliary basal body (ortholog); ciliary base (ortholog); ciliary tip (ortholog) | | | | Naked Mole-Rat | 61 | description | gene, protein-coding, MODEL [RefSeq] |
| 625914521 | Cilk1 | ciliogenesis associated kinase 1 | ENCODES a protein that exhibits ATP binding (ortholog); magnesium ion binding (ortholog); protein kinase activity (ortholog); INVOLVED IN cilium assembly (ortholog); intracellular signal transduction (ortholog); intraciliary anterograde transport (ortholog); ASSOCIATED WITH asph 700;'>asphyxiating thoracic dystrophy (ortholog); coloboma (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN ciliary basal body (ortholog); ciliary base (ortholog); ciliary tip (ortholog) | | | | Black Rat | 42 | description | gene, protein-coding, MODEL [RefSeq] |
| 2511 | Dync1h1 | dynein cytoplasmic 1 heavy chain 1 | ENCODES a protein that exhibits dynein light intermediate chain binding (ortholog); identical protein binding (ortholog); minus-end-directed microtubule motor activity (ortholog); INVOLVED IN cellular response to 3,3',5-triiodo-L-thyronine; cellular response to nerve growth factor stimulus; spermati d development; PARTICIPATES IN mitochondria transport pathway; phagocytosis pathway; vasopressin signaling pathway via receptor type 2; ASSOCIATED WITH Alzheimer's disease (ortholog); amyotrophic lateral sclerosis (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN axon; manchette; neuronal cell body; INTERACTS WITH 1,3-dinitrobenzene; 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine | 6 | 135436375 | 135502117 | Rat | 281 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 8870766 | Dync1h1 | dynein cytoplasmic 1 heavy chain 1 | ENCODES a protein that exhibits dynein light intermediate chain binding (ortholog); identical protein binding (ortholog); minus-end-directed microtubule motor activity (ortholog); INVOLVED IN cellular response to 3,3',5-triiodo-L-thyronine (ortholog); cellular response to nerve growth factor stimulu s (ortholog); establishment of spindle localization (ortholog); PARTICIPATES IN mitochondria transport pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); amyotrophic lateral sclerosis (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN axon (ortholog); centrosome (ortholog); cytoplasm (ortholog) | NW_004955538 | 1388595 | 1458166 | Chinchilla | 95 | description | gene, protein-coding, MODEL [RefSeq] |
| 11754867 | DYNC1H1 | dynein cytoplasmic 1 heavy chain 1 | ENCODES a protein that exhibits ATP binding (inferred); dynein intermediate chain binding (inferred); dynein light intermediate chain binding (inferred); INVOLVED IN cellular response to 3,3',5-triiodo-L-thyronine (ortholog); cellular response to nerve growth factor stimulus (ortholog); spermatid de velopment (ortholog); PARTICIPATES IN mitochondria transport pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); amyotrophic lateral sclerosis (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN axon (ortholog); manchette (ortholog); neuronal cell body (ortholog) | 14 | 82584876 | 82670750 | Bonobo | 107 | description | gene, protein-coding, MODEL [RefSeq] |
| 12388978 | DYNC1H1 | dynein cytoplasmic 1 heavy chain 1 | ENCODES a protein that exhibits ATP binding (inferred); dynein intermediate chain binding (inferred); dynein light intermediate chain binding (inferred); INVOLVED IN cellular response to 3,3',5-triiodo-L-thyronine (ortholog); cellular response to nerve growth factor stimulus (ortholog); spermatid de velopment (ortholog); PARTICIPATES IN mitochondria transport pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); amyotrophic lateral sclerosis (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN axon (ortholog); manchette (ortholog); neuronal cell body (ortholog) | 8 | 69997021 | 70064886 | Dog | 116 | description | gene, protein-coding, MODEL [RefSeq] |
| 12519351 | Dync1h1 | dynein cytoplasmic 1 heavy chain 1 | ENCODES a protein that exhibits ATP binding (inferred); dynein intermediate chain binding (inferred); dynein light intermediate chain binding (inferred); INVOLVED IN cellular response to 3,3',5-triiodo-L-thyronine (ortholog); cellular response to nerve growth factor stimulus (ortholog); spermatid de velopment (ortholog); PARTICIPATES IN mitochondria transport pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); amyotrophic lateral sclerosis (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN axon (ortholog); manchette (ortholog); neuronal cell body (ortholog) | NW_004936835 | 225879 | 290160 | Squirrel | 106 | description | gene, protein-coding, MODEL [RefSeq] |
| 14252650 | DYNC1H1 | dynein cytoplasmic 1 heavy chain 1 | ENCODES a protein that exhibits ATP binding (inferred); dynein intermediate chain binding (inferred); dynein light intermediate chain binding (inferred); INVOLVED IN cellular response to 3,3',5-triiodo-L-thyronine (ortholog); cellular response to nerve growth factor stimulus (ortholog); spermatid de velopment (ortholog); PARTICIPATES IN mitochondria transport pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); amyotrophic lateral sclerosis (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN axon (ortholog); manchette (ortholog); neuronal cell body (ortholog) | | | | Pig | 111 | description | gene, protein-coding, MODEL [RefSeq] |
| 18347250 | DYNC1H1 | dynein cytoplasmic 1 heavy chain 1 | ENCODES a protein that exhibits ATP binding (inferred); dynein intermediate chain binding (inferred); dynein light intermediate chain binding (inferred); INVOLVED IN cellular response to 3,3',5-triiodo-L-thyronine (ortholog); cellular response to nerve growth factor stimulus (ortholog); spermatid de velopment (ortholog); PARTICIPATES IN mitochondria transport pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); amyotrophic lateral sclerosis (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN axon (ortholog); manchette (ortholog); neuronal cell body (ortholog) | | | | Green Monkey | 106 | description | gene, protein-coding, MODEL [RefSeq] |
| 18914425 | Dync1h1 | dynein cytoplasmic 1 heavy chain 1 | ENCODES a protein that exhibits identical protein binding (ortholog); minus-end-directed microtubule motor activity (ortholog); INVOLVED IN cellular response to 3,3',5-triiodo-L-thyronine (ortholog); cellular response to nerve growth factor stimulus (ortholog); establishment of spindle localization (ortholog); PARTICIPATES IN mitochondria transport pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); amyotrophic lateral sclerosis (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN axon (ortholog); centrosome (ortholog); cytoplasm (ortholog) | | | | Naked Mole-Rat | 104 | description | gene, protein-coding, MODEL [RefSeq] |
| 625887558 | Dync1h1 | dynein cytoplasmic 1 heavy chain 1 | ENCODES a protein that exhibits dynein light intermediate chain binding (ortholog); identical protein binding (ortholog); minus-end-directed microtubule motor activity (ortholog); INVOLVED IN cellular response to 3,3',5-triiodo-L-thyronine (ortholog); cellular response to nerve growth factor stimulu s (ortholog); establishment of spindle localization (ortholog); PARTICIPATES IN mitochondria transport pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); amyotrophic lateral sclerosis (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN axon (ortholog); centrosome (ortholog); cytoplasm (ortholog) | | | | Black Rat | 88 | description | gene, protein-coding, MODEL [RefSeq] |
| 1332135 | Dync2li1 | dynein cytoplasmic 2 light intermediate chain 1 | Predicted to enable dynein heavy chain binding activity. Acts upstream of or within cilium assembly and determination of left/right symmetry. Located in apical part of cell; axoneme; and motile cilium. Is expressed in several structures, including gut; heart; lung; metanephros; and node. Human ortho log(s) of this gene implicated in asphyxiating thoracic dystrophy. Orthologous to human DYNC2LI1 (dynein cytoplasmic 2 light intermediate chain 1). [provided by Alliance of Genome Resources, Jul 2025] | 17 | 84933903 | 84962996 | Mouse | 142 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1557776 | Dynlt2b | dynein light chain Tctex-type 2B | Predicted to enable dynein intermediate chain binding activity. Predicted to be involved in intraciliary retrograde transport and regulation of intraciliary retrograde transport. Predicted to be located in ciliary base; cytoskeleton; and dynein axonemal particle. Predicted to be part of cytoplasmic dynein complex. Predicted to be active in cytoplasm. Is expressed in embryo and forelimb bud. Used to study spermatogenic failure. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy. Orthologous to human DYNLT2B (dynein light chain Tctex-type 2B). [provided by Alliance of Genome Resources, Apr 2025] | 16 | 32238520 | 32247917 | Mouse | 96 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1309109 | Ercc2 | ERCC excision repair 2, TFIIH core complex helicase subunit | ENCODES a protein that exhibits 5'-3' DNA helicase activity (ortholog); protein-macromolecule adaptor activity (ortholog); INVOLVED IN embryonic organ development; response to hypoxia; apoptotic process (ortholog); PARTICIPATES IN altered nucleotide excision repair pathway; nucleotide excision repai r pathway; RNA polymerase II transcription initiation pathway; ASSOCIATED WITH asphyxia neonatorum; acoustic neuroma (ortholog); acquired immunodeficiency syndrome (ortholog); FOUND IN transcription factor TFIIH core complex; CAK-ERCC2 complex (ortholog); cytoplasm (ortholog); INTERACTS WITH 4,4'-sulfonyldiphenol; aflatoxin B1; bisphenol A | 1 | 88161342 | 88175102 | Rat | 318 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1307139 | Ercc3 | ERCC excision repair 3, TFIIH core complex helicase subunit | ENCODES a protein that exhibits 3'-5' DNA helicase activity (ortholog); ATP hydrolysis activity (ortholog); promoter-specific chromatin binding (ortholog); INVOLVED IN embryonic organ development; response to hypoxia; apoptotic process (ortholog); PARTICIPATES IN altered nucleotide excision repair p athway; nucleotide excision repair pathway; RNA polymerase II transcription initiation pathway; ASSOCIATED WITH asphyxia neonatorum; Alzheimer's disease (ortholog); Arsenic Poisoning (ortholog); FOUND IN transcription factor TFIIH core complex; nucleoplasm (ortholog); transcription factor TFIID complex (ortholog); INTERACTS WITH (+)-pilocarpine; 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene | 18 | 24157831 | 24188543 | Rat | 158 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 8842198 | Ercc3 | ERCC excision repair 3, TFIIH core complex helicase subunit | ENCODES a protein that exhibits 3'-5' DNA helicase activity (ortholog); ATP hydrolysis activity (ortholog); promoter-specific chromatin binding (ortholog); INVOLVED IN apoptotic process (ortholog); DNA repair (ortholog); DNA topological change (ortholog); PARTICIPATES IN altered nucleotide excision repair pathway; nucleotide excision repair pathway; RNA polymerase II transcription initiation pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Arsenic Poisoning (ortholog); asphyxia neonatorum (ortholog); FOUND IN nucleoplasm (ortholog); transcription factor TFIID complex (ortholog); transcription factor TFIIH core complex (ortholog) | NW_004955459 | 3210936 | 3238401 | Chinchilla | 67 | description | gene, protein-coding, MODEL [RefSeq] |
| 11720739 | ERCC3 | ERCC excision repair 3, TFIIH core complex helicase subunit | ENCODES a protein that exhibits 3'-5' DNA helicase activity (inferred); ATP binding (inferred); ATP hydrolysis activity (inferred); INVOLVED IN embryonic organ development (ortholog); response to hypoxia (ortholog); transcription elongation by RNA polymerase I (ortholog); PARTICIPATES IN altered nuc leotide excision repair pathway; nucleotide excision repair pathway; RNA polymerase II transcription initiation pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Arsenic Poisoning (ortholog); asphyxia neonatorum (ortholog); FOUND IN transcription factor TFIIH core complex (ortholog) | 2B | 32983492 | 33020492 | Bonobo | 86 | description | gene, protein-coding, MODEL [RefSeq] |
| 12056482 | ERCC3 | ERCC excision repair 3, TFIIH core complex helicase subunit | ENCODES a protein that exhibits 3'-5' DNA helicase activity (inferred); ATP binding (inferred); ATP hydrolysis activity (inferred); INVOLVED IN embryonic organ development (ortholog); response to hypoxia (ortholog); transcription elongation by RNA polymerase I (ortholog); PARTICIPATES IN altered nuc leotide excision repair pathway; nucleotide excision repair pathway; RNA polymerase II transcription initiation pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Arsenic Poisoning (ortholog); asphyxia neonatorum (ortholog); FOUND IN transcription factor TFIIH core complex (ortholog) | 19 | 23310911 | 23344083 | Dog | 86 | description | gene, protein-coding, MODEL [RefSeq] |
| 12600223 | Ercc3 | ERCC excision repair 3, TFIIH core complex helicase subunit | ENCODES a protein that exhibits 3'-5' DNA helicase activity (inferred); ATP binding (inferred); ATP hydrolysis activity (inferred); INVOLVED IN embryonic organ development (ortholog); response to hypoxia (ortholog); transcription elongation by RNA polymerase I (ortholog); PARTICIPATES IN altered nuc leotide excision repair pathway; nucleotide excision repair pathway; RNA polymerase II transcription initiation pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Arsenic Poisoning (ortholog); asphyxia neonatorum (ortholog); FOUND IN transcription factor TFIIH core complex (ortholog) | NW_004936469 | 43970002 | 43998279 | Squirrel | 86 | description | gene, protein-coding, MODEL [RefSeq] |
| 14062642 | ERCC3 | ERCC excision repair 3, TFIIH core complex helicase subunit | ENCODES a protein that exhibits promoter-specific chromatin binding (ortholog); INVOLVED IN embryonic organ development (ortholog); response to hypoxia (ortholog); transcription elongation by RNA polymerase I (ortholog); PARTICIPATES IN altered nucleotide excision repair pathway; nucleotide excision repair pathway; RNA polymerase II transcription initiation pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Arsenic Poisoning (ortholog); asphyxia neonatorum (ortholog); FOUND IN transcription factor TFIIH core complex (ortholog) | | | | Pig | 86 | description | gene, protein-coding, MODEL [RefSeq] |
| 18402084 | ERCC3 | ERCC excision repair 3, TFIIH core complex helicase subunit | ENCODES a protein that exhibits 3'-5' DNA helicase activity (inferred); ATP binding (inferred); ATP hydrolysis activity (inferred); INVOLVED IN embryonic organ development (ortholog); response to hypoxia (ortholog); transcription elongation by RNA polymerase I (ortholog); PARTICIPATES IN altered nuc leotide excision repair pathway; nucleotide excision repair pathway; RNA polymerase II transcription initiation pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Arsenic Poisoning (ortholog); asphyxia neonatorum (ortholog); FOUND IN transcription factor TFIIH core complex (ortholog) | | | | Green Monkey | 86 | description | gene, protein-coding, MODEL [RefSeq] |
| 18931370 | Ercc3 | ERCC excision repair 3, TFIIH core complex helicase subunit | ENCODES a protein that exhibits 3'-5' DNA helicase activity (inferred); ATP binding (inferred); ATP hydrolysis activity (inferred); INVOLVED IN apoptotic process (ortholog); DNA topological change (ortholog); embryonic organ development (ortholog); PARTICIPATES IN altered nucleotide excision repair pathway; nucleotide excision repair pathway; RNA polymerase II transcription initiation pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Arsenic Poisoning (ortholog); asphyxia neonatorum (ortholog); FOUND IN nucleoplasm (ortholog); transcription factor TFIID complex (ortholog); transcription factor TFIIH core complex (ortholog) | | | | Naked Mole-Rat | 81 | description | gene, protein-coding, MODEL [RefSeq] |
| 625905419 | Ercc3 | ERCC excision repair 3, TFIIH core complex helicase subunit | ENCODES a protein that exhibits 3'-5' DNA helicase activity (ortholog); ATP hydrolysis activity (ortholog); promoter-specific chromatin binding (ortholog); INVOLVED IN apoptotic process (ortholog); DNA repair (ortholog); DNA topological change (ortholog); PARTICIPATES IN altered nucleotide excision repair pathway; nucleotide excision repair pathway; RNA polymerase II transcription initiation pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Arsenic Poisoning (ortholog); asphyxia neonatorum (ortholog); FOUND IN nucleoplasm (ortholog); transcription factor TFIID complex (ortholog); transcription factor TFIIH core complex (ortholog) | | | | Black Rat | 67 | description | gene, protein-coding, MODEL [RefSeq] |
| 1303117 | Fam98c | family with sequence similarity 98, member C | ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); autism spectrum disorder (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; bisphenol A; C60 fullerene | 1 | 93580286 | 93583894 | Rat | 54 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 11837084 | FAM98C | family with sequence similarity 98 member C | ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); autism spectrum disorder (ortholog); FOUND IN tRNA-splicing ligase complex (inferred) | 19 | 35497144 | 35503168 | Bonobo | 4 | description | gene, protein-coding, MODEL [RefSeq] |
| 12181313 | FAM98C | family with sequence similarity 98 member C | ENCODES a protein that exhibits ATP binding (inferred); calcium channel activity (inferred); calcium-induced calcium release activity (inferred); INVOLVED IN calcium ion transmembrane transport (inferred); calcium ion transport (inferred); calcium-mediated signaling (inferred); ASSOCIATED WITH asph style='font-weight:700;'>asphyxiating thoracic dystrophy 3 (ortholog); autism spectrum disorder (ortholog); FOUND IN cell cortex (inferred); cytoplasm (inferred); I band (inferred) | 1 | 114598841 | 114602316 | Dog | 46 | description | gene, protein-coding, MODEL [RefSeq] |
| 12568034 | Fam98c | family with sequence similarity 98 member C | ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); autism spectrum disorder (ortholog); FOUND IN tRNA-splicing ligase complex (inferred) | NW_004936801 | 1162178 | 1166621 | Squirrel | 4 | description | gene, protein-coding, MODEL [RefSeq] |
| 14145114 | FAM98C | family with sequence similarity 98 member C | ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); autism spectrum disorder (ortholog); INTERACTS WITH deoxynivalenol | | | | Pig | 5 | description | gene, protein-coding, MODEL [RefSeq] |
| 18913974 | Fam98c | family with sequence similarity 98 member C | ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); autism spectrum disorder (ortholog); FOUND IN tRNA-splicing ligase complex (inferred) | | | | Naked Mole-Rat | 4 | description | gene, protein-coding, MODEL [RefSeq] |
| 1596541 | Flvcr1 | FLVCR choline and heme transporter 1 | ENCODES a protein that exhibits choline transmembrane transporter activity (ortholog); ethanolamine transmembrane transporter activity (ortholog); heme B transmembrane transporter activity (ortholog); INVOLVED IN blood vessel development (ortholog); choline transport (ortholog); embryonic digit morp hogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Diamond-Blackfan anemia (ortholog); fundus dystrophy (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial membrane (ortholog); mitochondrion (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; aflatoxin B1 | 13 | 105117402 | 105139780 | Rat | 114 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8774005 | Flvcr1 | FLVCR choline and heme transporter 1 | ENCODES a protein that exhibits choline transmembrane transporter activity (ortholog); ethanolamine transmembrane transporter activity (ortholog); heme B transmembrane transporter activity (ortholog); INVOLVED IN blood vessel development (ortholog); choline transport (ortholog); embryonic digit morp hogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Diamond-Blackfan anemia (ortholog); fundus dystrophy (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial membrane (ortholog); mitochondrion (ortholog) | NW_004955406 | 4673797 | 4702858 | Chinchilla | 46 | description | gene, protein-coding, MODEL [RefSeq] |
| 11926766 | FLVCR1 | FLVCR choline and heme transporter 1 | ENCODES a protein that exhibits heme B transmembrane transporter activity (ortholog); INVOLVED IN blood vessel development (ortholog); embryonic digit morphogenesis (ortholog); embryonic skeletal system morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thor acic dystrophy (ortholog); Diamond-Blackfan anemia (ortholog); fundus dystrophy (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial membrane (ortholog) | 1 | 188425697 | 188466721 | Bonobo | 58 | description | gene, protein-coding, MODEL [RefSeq] |
| 12306969 | FLVCR1 | FLVCR choline and heme transporter 1 | ENCODES a protein that exhibits heme B transmembrane transporter activity (ortholog); INVOLVED IN blood vessel development (ortholog); embryonic digit morphogenesis (ortholog); embryonic skeletal system morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thor acic dystrophy (ortholog); Diamond-Blackfan anemia (ortholog); fundus dystrophy (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial membrane (ortholog) | 7 | 11001155 | 11038910 | Dog | 59 | description | gene, protein-coding, MODEL [RefSeq] |
| 12701679 | Flvcr1 | FLVCR choline and heme transporter 1 | ENCODES a protein that exhibits heme B transmembrane transporter activity (ortholog); INVOLVED IN blood vessel development (ortholog); embryonic digit morphogenesis (ortholog); embryonic skeletal system morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thor acic dystrophy (ortholog); Diamond-Blackfan anemia (ortholog); fundus dystrophy (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial membrane (ortholog) | NW_004936557 | 693445 | 727166 | Squirrel | 58 | description | gene, protein-coding, MODEL [RefSeq] |
| 13857115 | FLVCR1 | FLVCR choline and heme transporter 1 | ENCODES a protein that exhibits heme B transmembrane transporter activity (ortholog); INVOLVED IN blood vessel development (ortholog); embryonic digit morphogenesis (ortholog); embryonic skeletal system morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thor acic dystrophy (ortholog); Diamond-Blackfan anemia (ortholog); fundus dystrophy (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial membrane (ortholog) | | | | Pig | 59 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 18671964 | FLVCR1 | FLVCR choline and heme transporter 1 | ENCODES a protein that exhibits heme B transmembrane transporter activity (ortholog); INVOLVED IN blood vessel development (ortholog); embryonic digit morphogenesis (ortholog); embryonic skeletal system morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thor acic dystrophy (ortholog); Diamond-Blackfan anemia (ortholog); fundus dystrophy (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial membrane (ortholog) | | | | Green Monkey | 58 | description | gene, protein-coding, MODEL [RefSeq] |
| 18926687 | Flvcr1 | FLVCR choline and heme transporter 1 | ENCODES a protein that exhibits ethanolamine transmembrane transporter activity (ortholog); heme B transmembrane transporter activity (ortholog); INVOLVED IN blood vessel development (ortholog); embryonic digit morphogenesis (ortholog); embryonic skeletal system morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Diamond-Blackfan anemia (ortholog); fundus dystrophy (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial membrane (ortholog); plasma membrane (ortholog) | | | | Naked Mole-Rat | 56 | description | gene, protein-coding, MODEL [RefSeq] |
| 626106528 | Flvcr1 | FLVCR choline and heme transporter 1 | ENCODES a protein that exhibits choline transmembrane transporter activity (ortholog); ethanolamine transmembrane transporter activity (ortholog); heme B transmembrane transporter activity (ortholog); INVOLVED IN blood vessel development (ortholog); choline transport (ortholog); embryonic digit morp hogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Diamond-Blackfan anemia (ortholog); fundus dystrophy (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial membrane (ortholog); mitochondrion (ortholog) | | | | Black Rat | 45 | description | gene, protein-coding, MODEL [RefSeq] |
| 1310608 | Fuz | fuzzy planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (ortholog); INVOLVED IN anterior/posterior pattern specification (ortholog); aorta development (ortholog); cardiac septum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (orthol og); Desbuquois dysplasia (ortholog); neural tube defect (ortholog); FOUND IN cytoplasm (inferred); cytoskeleton (inferred); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran; 4,4'-sulfonyldiphenol | 1 | 104515782 | 104524591 | Rat | 120 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8776877 | Fuz | fuzzy planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (ortholog); INVOLVED IN anterior/posterior pattern specification (ortholog); aorta development (ortholog); cardiac septum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (orthol og); Desbuquois dysplasia (ortholog); neural tube defect (ortholog) | NW_004955559 | 1112670 | 1117620 | Chinchilla | 47 | description | gene, protein-coding, MODEL [RefSeq] |
| 11727136 | FUZ | fuzzy planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (ortholog); INVOLVED IN anterior/posterior pattern specification (ortholog); aorta development (ortholog); cardiac septum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (orthol og); Desbuquois dysplasia (ortholog); neural tube defect (ortholog); FOUND IN cytoskeleton (inferred) | 19 | 46819833 | 46826235 | Bonobo | 47 | description | gene, protein-coding, MODEL [RefSeq] |
| 12122185 | FUZ | fuzzy planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (ortholog); INVOLVED IN anterior/posterior pattern specification (ortholog); aorta development (ortholog); cardiac septum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (orthol og); Desbuquois dysplasia (ortholog); neural tube defect (ortholog); FOUND IN cytoskeleton (inferred) | 1 | 106742381 | 106752543 | Dog | 47 | description | gene, protein-coding, MODEL [RefSeq] |
| 12572580 | Fuz | fuzzy planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (ortholog); INVOLVED IN anterior/posterior pattern specification (ortholog); aorta development (ortholog); cardiac septum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (orthol og); Desbuquois dysplasia (ortholog); neural tube defect (ortholog); FOUND IN cytoskeleton (inferred) | NW_004936664 | 3596764 | 3601676 | Squirrel | 47 | description | gene, protein-coding, MODEL [RefSeq] |
| 13900528 | FUZ | fuzzy planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (ortholog); INVOLVED IN anterior/posterior pattern specification (ortholog); aorta development (ortholog); cardiac septum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (orthol og); Desbuquois dysplasia (ortholog); neural tube defect (ortholog); FOUND IN cytoskeleton (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 48 | description | gene, protein-coding, MODEL [RefSeq] |
| 18601396 | FUZ | fuzzy planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (ortholog); INVOLVED IN anterior/posterior pattern specification (ortholog); aorta development (ortholog); cardiac septum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (orthol og); Desbuquois dysplasia (ortholog); neural tube defect (ortholog); FOUND IN cytoskeleton (inferred) | | | | Green Monkey | 47 | description | gene, protein-coding, MODEL [RefSeq] |
| 18930735 | Fuz | fuzzy planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (ortholog); INVOLVED IN anterior/posterior pattern specification (ortholog); aorta development (ortholog); cardiac septum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (orthol og); Desbuquois dysplasia (ortholog); neural tube defect (ortholog); FOUND IN cytoskeleton (inferred) | | | | Naked Mole-Rat | 48 | description | gene, protein-coding, MODEL [RefSeq] |
| 626006318 | Fuz | fuzzy planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (ortholog); INVOLVED IN anterior/posterior pattern specification (ortholog); aorta development (ortholog); cardiac septum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (orthol og); Desbuquois dysplasia (ortholog); neural tube defect (ortholog) | | | | Black Rat | 47 | description | gene, protein-coding, MODEL [RefSeq] |
| 8836503 | Grk2 | G protein-coupled receptor kinase 2 | ENCODES a protein that exhibits beta-adrenergic receptor kinase activity (ortholog); delta-type opioid receptor binding (ortholog); Edg-2 lysophosphatidic acid receptor binding (ortholog); INVOLVED IN cardiac muscle contraction (ortholog); cellular response to catecholamine stimulus (ortholog); cell ular response to chemokine (ortholog); PARTICIPATES IN acetylcholine signaling pathway via muscarinic acetylcholine receptor; angiotensin II signaling pathway via AT1 receptor; calcium signaling pathway via the calcium-sensing receptor; ASSOCIATED WITH allergic contact dermatitis (ortholog); asphyxiating thoracic dystrophy (ortholog); bacterial pneumonia (ortholog); FOUND IN apical plasma membrane (ortholog); axon terminus (ortholog); basolateral plasma membrane (ortholog) | NW_004955422 | 18173438 | 18192357 | Chinchilla | 172 | description | gene, protein-coding, MODEL [RefSeq] |
| 11694955 | GRK2 | G protein-coupled receptor kinase 2 | ENCODES a protein that exhibits beta-adrenergic receptor kinase activity (ortholog); delta-type opioid receptor binding (ortholog); G protein-coupled receptor binding (ortholog); INVOLVED IN cellular response to catecholamine stimulus (ortholog); cellular response to chemokine (ortholog); cellular r esponse to epidermal growth factor stimulus (ortholog); PARTICIPATES IN acetylcholine signaling pathway via muscarinic acetylcholine receptor; angiotensin II signaling pathway via AT1 receptor; calcium signaling pathway via the calcium-sensing receptor; ASSOCIATED WITH allergic contact dermatitis (ortholog); asphyxiating thoracic dystrophy (ortholog); bacterial pneumonia (ortholog); FOUND IN apical plasma membrane (ortholog); axon terminus (ortholog); basolateral plasma membrane (ortholog) | 11 | 62624647 | 62644846 | Bonobo | 192 | description | gene, protein-coding, MODEL [RefSeq] |
| 12280453 | GRK2 | G protein-coupled receptor kinase 2 | ENCODES a protein that exhibits beta-adrenergic receptor kinase activity (ortholog); delta-type opioid receptor binding (ortholog); G protein-coupled receptor binding (ortholog); INVOLVED IN cellular response to catecholamine stimulus (ortholog); cellular response to chemokine (ortholog); cellular r esponse to epidermal growth factor stimulus (ortholog); PARTICIPATES IN acetylcholine signaling pathway via muscarinic acetylcholine receptor; angiotensin II signaling pathway via AT1 receptor; calcium signaling pathway via the calcium-sensing receptor; ASSOCIATED WITH allergic contact dermatitis (ortholog); asphyxiating thoracic dystrophy (ortholog); bacterial pneumonia (ortholog); FOUND IN apical plasma membrane (ortholog); axon terminus (ortholog); basolateral plasma membrane (ortholog) | 18 | 50148566 | 50167422 | Dog | 188 | description | gene, protein-coding, MODEL [RefSeq] |
| 12465841 | Grk2 | G protein-coupled receptor kinase 2 | ENCODES a protein that exhibits beta-adrenergic receptor kinase activity (ortholog); delta-type opioid receptor binding (ortholog); G protein-coupled receptor binding (ortholog); INVOLVED IN cellular response to catecholamine stimulus (ortholog); cellular response to chemokine (ortholog); cellular r esponse to epidermal growth factor stimulus (ortholog); PARTICIPATES IN acetylcholine signaling pathway via muscarinic acetylcholine receptor; angiotensin II signaling pathway via AT1 receptor; calcium signaling pathway via the calcium-sensing receptor; ASSOCIATED WITH allergic contact dermatitis (ortholog); asphyxiating thoracic dystrophy (ortholog); bacterial pneumonia (ortholog); FOUND IN apical plasma membrane (ortholog); axon terminus (ortholog); basolateral plasma membrane (ortholog) | NW_004936599 | 2437061 | 2456141 | Squirrel | 191 | description | gene, protein-coding, MODEL [RefSeq] |
| 13889263 | GRK2 | G protein-coupled receptor kinase 2 | ENCODES a protein that exhibits beta-adrenergic receptor kinase activity (ortholog); delta-type opioid receptor binding (ortholog); G protein-coupled receptor binding (ortholog); INVOLVED IN cellular response to catecholamine stimulus (ortholog); cellular response to chemokine (ortholog); cellular r esponse to epidermal growth factor stimulus (ortholog); PARTICIPATES IN acetylcholine signaling pathway via muscarinic acetylcholine receptor; angiotensin II signaling pathway via AT1 receptor; calcium signaling pathway via the calcium-sensing receptor; ASSOCIATED WITH allergic contact dermatitis (ortholog); asphyxiating thoracic dystrophy (ortholog); bacterial pneumonia (ortholog); FOUND IN apical plasma membrane (ortholog); axon terminus (ortholog); basolateral plasma membrane (ortholog) | | | | Pig | 190 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 18352715 | GRK2 | G protein-coupled receptor kinase 2 | ENCODES a protein that exhibits beta-adrenergic receptor kinase activity (ortholog); delta-type opioid receptor binding (ortholog); G protein-coupled receptor binding (ortholog); INVOLVED IN cellular response to catecholamine stimulus (ortholog); cellular response to chemokine (ortholog); cellular r esponse to epidermal growth factor stimulus (ortholog); PARTICIPATES IN acetylcholine signaling pathway via muscarinic acetylcholine receptor; angiotensin II signaling pathway via AT1 receptor; calcium signaling pathway via the calcium-sensing receptor; ASSOCIATED WITH allergic contact dermatitis (ortholog); asphyxiating thoracic dystrophy (ortholog); bacterial pneumonia (ortholog); FOUND IN apical plasma membrane (ortholog); axon terminus (ortholog); basolateral plasma membrane (ortholog) | | | | Green Monkey | 192 | description | gene, protein-coding, MODEL [RefSeq] |
| 18934396 | Grk2 | G protein-coupled receptor kinase 2 | ENCODES a protein that exhibits beta-adrenergic receptor kinase activity (ortholog); delta-type opioid receptor binding (ortholog); Edg-2 lysophosphatidic acid receptor binding (ortholog); INVOLVED IN cardiac muscle contraction (ortholog); cellular response to catecholamine stimulus (ortholog); cell ular response to chemokine (ortholog); PARTICIPATES IN acetylcholine signaling pathway via muscarinic acetylcholine receptor; angiotensin II signaling pathway via AT1 receptor; calcium signaling pathway via the calcium-sensing receptor; ASSOCIATED WITH allergic contact dermatitis (ortholog); asphyxiating thoracic dystrophy (ortholog); bacterial pneumonia (ortholog); FOUND IN apical plasma membrane (ortholog); axon terminus (ortholog); basolateral plasma membrane (ortholog) | | | | Naked Mole-Rat | 186 | description | gene, protein-coding, MODEL [RefSeq] |
| 625990038 | Grk2 | G protein-coupled receptor kinase 2 | ENCODES a protein that exhibits beta-adrenergic receptor kinase activity (ortholog); delta-type opioid receptor binding (ortholog); Edg-2 lysophosphatidic acid receptor binding (ortholog); INVOLVED IN cardiac muscle contraction (ortholog); cellular response to catecholamine stimulus (ortholog); cell ular response to chemokine (ortholog); PARTICIPATES IN acetylcholine signaling pathway via muscarinic acetylcholine receptor; angiotensin II signaling pathway via AT1 receptor; calcium signaling pathway via the calcium-sensing receptor; ASSOCIATED WITH allergic contact dermatitis (ortholog); asphyxiating thoracic dystrophy (ortholog); bacterial pneumonia (ortholog); FOUND IN apical plasma membrane (ortholog); axon terminus (ortholog); basolateral plasma membrane (ortholog) | | | | Black Rat | 172 | description | gene, protein-coding, MODEL [RefSeq] |
| 71058 | Hnrnpk | heterogeneous nuclear ribonucleoprotein K | ENCODES a protein that exhibits actinin binding; ATPase binding; C-rich single-stranded DNA binding; INVOLVED IN acute-phase response; camera-type eye development; cellular response to amino acid stimulus; PARTICIPATES IN spliceosome pathway; ASSOCIATED WITH Experimental Diabetes Mellitus; Perinatal Asphyxia; Pituitary Neoplasms; FOUND IN axon terminus; cell cortex; dendritic spine; INTERACTS WITH 17beta-estradiol; 2,4-dibromophenyl 2,4,5-tribromophenyl ether; 2,6-dinitrotoluene | 17 | 6269302 | 6280429 | Rat | 318 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1308906 | Htra2 | HtrA serine peptidase 2 | ENCODES a protein that exhibits serine-type peptidase activity; identical protein binding (ortholog); peptidase activity (ortholog); INVOLVED IN neuron apoptotic process; positive regulation of apoptotic process; response to herbicide; PARTICIPATES IN intrinsic apoptotic pathway; Parkinson's disease pathway; ASSOCIATED WITH asphyxia neonatorum; cryptorchidism; middle cerebral artery infarction; FOUND IN CD40 receptor complex (ortholog); chromatin (ortholog); cytoplasmic side of plasma membrane (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; bisphenol A; clofibric acid | 4 | 117114631 | 117117793 | Rat | 264 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 8761863 | Htra2 | HtrA serine peptidase 2 | ENCODES a protein that exhibits identical protein binding (ortholog); peptidase activity (ortholog); protein serine/threonine kinase inhibitor activity (ortholog); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); cellular response to growth factor stimulus (orthol og); PARTICIPATES IN intrinsic apoptotic pathway; ASSOCIATED WITH 3-methylglutaconic aciduria type 8 (ortholog); Alzheimer's disease (ortholog); asphyxia neonatorum (ortholog); FOUND IN CD40 receptor complex (ortholog); chromatin (ortholog); cytoplasmic side of plasma membrane (ortholog) | NW_004955424 | 11255756 | 11259170 | Chinchilla | 112 | description | gene, protein-coding, MODEL [RefSeq] |
| 12005662 | HTRA2 | HtrA serine peptidase 2 | ENCODES a protein that exhibits serine-type peptidase activity (ortholog); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); forebrain development (ortholog); PARTICIPATES IN intrinsic apoptotic pathway; ASSOCIATED WITH 3-methylglutaconic aciduria type 8 (ortholog) ; Alzheimer's disease (ortholog); asphyxia neonatorum (ortholog); FOUND IN CD40 receptor complex (inferred); chromatin (inferred); cytoplasmic side of plasma membrane (inferred) | 2A | 74596020 | 74599790 | Bonobo | 126 | description | gene, protein-coding, MODEL [RefSeq] |
| 12355387 | HTRA2 | HtrA serine peptidase 2 | ENCODES a protein that exhibits serine-type peptidase activity (ortholog); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); forebrain development (ortholog); PARTICIPATES IN intrinsic apoptotic pathway; ASSOCIATED WITH 3-methylglutaconic aciduria type 8 (ortholog) ; Alzheimer's disease (ortholog); asphyxia neonatorum (ortholog); FOUND IN CD40 receptor complex (inferred); chromatin (inferred); cytoplasmic side of plasma membrane (inferred) | 17 | 48610408 | 48613399 | Dog | 126 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 12600297 | Htra2 | HtrA serine peptidase 2 | ENCODES a protein that exhibits serine-type peptidase activity (ortholog); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); forebrain development (ortholog); PARTICIPATES IN intrinsic apoptotic pathway; ASSOCIATED WITH 3-methylglutaconic aciduria type 8 (ortholog) ; Alzheimer's disease (ortholog); asphyxia neonatorum (ortholog); FOUND IN CD40 receptor complex (inferred); chromatin (inferred); cytoplasmic side of plasma membrane (inferred) | NW_004936556 | 741718 | 746016 | Squirrel | 127 | description | gene, protein-coding, MODEL [RefSeq] |
| 14147447 | HTRA2 | HtrA serine peptidase 2 | ENCODES a protein that exhibits serine-type peptidase activity (ortholog); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); forebrain development (ortholog); PARTICIPATES IN intrinsic apoptotic pathway; ASSOCIATED WITH 3-methylglutaconic aciduria type 8 (ortholog) ; Alzheimer's disease (ortholog); asphyxia neonatorum (ortholog); FOUND IN CD40 receptor complex (inferred); chromatin (inferred); cytoplasmic side of plasma membrane (inferred) | | | | Pig | 126 | description | gene, protein-coding, MODEL [RefSeq] |
| 18745218 | HTRA2 | HtrA serine peptidase 2 | ENCODES a protein that exhibits serine-type peptidase activity (ortholog); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); forebrain development (ortholog); PARTICIPATES IN intrinsic apoptotic pathway; ASSOCIATED WITH 3-methylglutaconic aciduria type 8 (ortholog) ; Alzheimer's disease (ortholog); asphyxia neonatorum (ortholog); FOUND IN CD40 receptor complex (inferred); chromatin (inferred); cytoplasmic side of plasma membrane (inferred) | | | | Green Monkey | 126 | description | gene, protein-coding, MODEL [RefSeq] |
| 18936427 | Htra2 | HtrA serine peptidase 2 | ENCODES a protein that exhibits identical protein binding (ortholog); protein serine/threonine kinase inhibitor activity (ortholog); serine-type peptidase activity (ortholog); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); cellular response to growth factor stim ulus (ortholog); PARTICIPATES IN intrinsic apoptotic pathway; ASSOCIATED WITH 3-methylglutaconic aciduria type 8 (ortholog); Alzheimer's disease (ortholog); asphyxia neonatorum (ortholog); FOUND IN CD40 receptor complex (ortholog); chromatin (ortholog); cytoplasmic side of plasma membrane (ortholog) | | | | Naked Mole-Rat | 116 | description | gene, protein-coding, MODEL [RefSeq] |
| 625890041 | Htra2 | HtrA serine peptidase 2 | ENCODES a protein that exhibits identical protein binding (ortholog); peptidase activity (ortholog); protein serine/threonine kinase inhibitor activity (ortholog); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); cellular response to growth factor stimulus (orthol og); PARTICIPATES IN intrinsic apoptotic pathway; ASSOCIATED WITH 3-methylglutaconic aciduria type 8 (ortholog); Alzheimer's disease (ortholog); asphyxia neonatorum (ortholog); FOUND IN CD40 receptor complex (ortholog); chromatin (ortholog); cytoplasmic side of plasma membrane (ortholog) | | | | Black Rat | 112 | description | gene, protein-coding, MODEL [RefSeq] |
| 1553664 | Ift140 | intraflagellar transport 140 | Acts upstream of or within several processes, including cilium organization; embryonic organ development; and regionalization. Located in cytoskeleton and photoreceptor cell cilium. Part of intraciliary transport particle A. Is expressed in several structures, including adrenal gland; bone; eye; hea rt; and perichondrium. Used to study asphyxiating thoracic dystrophy 1 and short-rib thoracic dysplasia 9 with or without polydactyly. Human ortholog(s) of this gene implicated in retinitis pigmentosa and short-rib thoracic dysplasia 9 with or without polydactyly. Orthologous to human IFT140 (intraflagellar transport 140). [provided by Alliance of Genome Resources, Apr 2025] | 17 | 25235056 | 25318461 | Mouse | 247 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1307392 | Ift43 | intraflagellar transport 43 | INVOLVED IN cilium assembly (ortholog); intraciliary retrograde transport (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN centriole (ortholog); cilium ( ortholog); intercellular bridge (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; amphetamine | 6 | 111460689 | 111537224 | Rat | 78 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8760239 | Ift43 | intraflagellar transport 43 | INVOLVED IN cilium assembly (ortholog); intraciliary retrograde transport (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN centriole (ortholog); cilium ( ortholog); intercellular bridge (ortholog) | NW_004955438 | 58503 | 144675 | Chinchilla | 30 | description | gene, protein-coding, MODEL [RefSeq] |
| 11765337 | IFT43 | intraflagellar transport 43 | INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); intraciliary retrograde transport (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog) ; FOUND IN centriole (inferred); cilium (inferred); intercellular bridge (inferred) | 14 | 56544333 | 56642312 | Bonobo | 32 | description | gene, protein-coding, MODEL [RefSeq] |
| 12342139 | IFT43 | intraflagellar transport 43 | INVOLVED IN cilium assembly (ortholog); intraciliary retrograde transport (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN cilium (ortholog); intraciliar y transport particle A (ortholog) | 8 | 48949740 | 49031614 | Dog | 38 | description | gene, protein-coding, MODEL [RefSeq] |
| 12537089 | Ift43 | intraflagellar transport 43 | INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); intraciliary retrograde transport (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog) ; FOUND IN centriole (inferred); cilium (inferred); intercellular bridge (inferred) | NW_004936488 | 5011792 | 5090980 | Squirrel | 32 | description | gene, protein-coding, MODEL [RefSeq] |
| 13868868 | IFT43 | intraflagellar transport 43 | INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); intraciliary retrograde transport (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog) ; FOUND IN centriole (inferred); cilium (inferred); intercellular bridge (inferred) | | | | Pig | 32 | description | gene, protein-coding, MODEL [RefSeq] |
| 18483645 | IFT43 | intraflagellar transport 43 | INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); intraciliary retrograde transport (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog) ; FOUND IN centriole (inferred); cilium (inferred); intercellular bridge (inferred) | | | | Green Monkey | 32 | description | gene, protein-coding, MODEL [RefSeq] |
| 18932317 | Ift43 | intraflagellar transport 43 | INVOLVED IN cilium assembly (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN centriole (ortholog); intercellular bridge (ortholog); microtubule cytoskele ton (ortholog) | | | | Naked Mole-Rat | 29 | description | gene, protein-coding, MODEL [RefSeq] |
| 625861585 | Ift43 | intraflagellar transport 43 | INVOLVED IN cilium assembly (ortholog); intraciliary retrograde transport (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN centriole (ortholog); cilium ( ortholog); intercellular bridge (ortholog) | | | | Black Rat | 29 | description | gene, protein-coding, MODEL [RefSeq] |
| 1311004 | Ift52 | intraflagellar transport 52 | INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); dorsal/ventral pattern formation (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); gastrointestinal stromal tumor (ort holog); FOUND IN centriole (ortholog); centrosome (ortholog); ciliary basal body (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; bisphenol A; dibutyl phthalate | 3 | 172091591 | 172116497 | Rat | 85 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1322229 | Ift52 | intraflagellar transport 52 | Acts upstream of or within several processes, including embryonic morphogenesis; negative regulation of keratinocyte proliferation; and non-motile cilium assembly. Located in several cellular components, including ciliary base; ciliary tip; and microtubule organizing center. Part of intraciliary tra nsport particle B. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy. Orthologous to human IFT52 (intraflagellar transport 52). [provided by Alliance of Genome Resources, Jul 2025] | 2 | 162859200 | 162888075 | Mouse | 97 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 9026283 | Ift52 | intraflagellar transport 52 | INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); dorsal/ventral pattern formation (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); gastrointestinal stromal tumor (ort holog); FOUND IN centriole (ortholog); centrosome (ortholog); ciliary basal body (ortholog) | NW_004955445 | 13542726 | 13580204 | Chinchilla | 33 | description | gene, protein-coding, MODEL [RefSeq] |
| 11975732 | IFT52 | intraflagellar transport 52 | INVOLVED IN determination of left/right symmetry (ortholog); dorsal/ventral pattern formation (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); gastrointestinal stro mal tumor (ortholog); FOUND IN centriole (inferred); centrosome (inferred); ciliary basal body (inferred) | 20 | 39929523 | 39986072 | Bonobo | 35 | description | gene, protein-coding, MODEL [RefSeq] |
| 12128742 | IFT52 | intraflagellar transport 52 | INVOLVED IN determination of left/right symmetry (ortholog); dorsal/ventral pattern formation (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); gastrointestinal stro mal tumor (ortholog); FOUND IN centriole (inferred); centrosome (inferred); ciliary basal body (inferred) | 24 | 31295987 | 31334825 | Dog | 35 | description | gene, protein-coding, MODEL [RefSeq] |
| 12717076 | Ift52 | intraflagellar transport 52 | INVOLVED IN determination of left/right symmetry (ortholog); dorsal/ventral pattern formation (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); gastrointestinal stro mal tumor (ortholog); FOUND IN centriole (inferred); centrosome (inferred); ciliary basal body (inferred) | NW_004936530 | 2965587 | 3003758 | Squirrel | 35 | description | gene, protein-coding, MODEL [RefSeq] |
| 14192661 | IFT52 | intraflagellar transport 52 | INVOLVED IN determination of left/right symmetry (ortholog); dorsal/ventral pattern formation (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); gastrointestinal stro mal tumor (ortholog); FOUND IN centriole (inferred); centrosome (inferred); ciliary basal body (inferred) | | | | Pig | 35 | description | gene, protein-coding, MODEL [RefSeq] |
| 18766400 | IFT52 | intraflagellar transport 52 | INVOLVED IN determination of left/right symmetry (ortholog); dorsal/ventral pattern formation (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); gastrointestinal stro mal tumor (ortholog); FOUND IN centriole (inferred); centrosome (inferred); ciliary basal body (inferred) | | | | Green Monkey | 35 | description | gene, protein-coding, MODEL [RefSeq] |
| 18900140 | Ift52 | intraflagellar transport 52 | INVOLVED IN determination of left/right symmetry (ortholog); dorsal/ventral pattern formation (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); gastrointestinal stro mal tumor (ortholog); FOUND IN centrosome (ortholog); ciliary basal body (ortholog); ciliary base (ortholog) | | | | Naked Mole-Rat | 33 | description | gene, protein-coding, MODEL [RefSeq] |
| 626052280 | Ift52 | intraflagellar transport 52 | INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); dorsal/ventral pattern formation (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); gastrointestinal stromal tumor (ort holog); FOUND IN centriole (ortholog); centrosome (ortholog); ciliary basal body (ortholog) | | | | Black Rat | 33 | description | gene, protein-coding, MODEL [RefSeq] |
| 1359704 | Ift74 | intraflagellar transport 74 | ENCODES a protein that exhibits beta-tubulin binding (ortholog); chromatin binding (ortholog); INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); epidermis development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystro phy (ortholog); autism spectrum disorder (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN centriolar satellite (ortholog); centrosome (ortholog); ciliary basal body (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; amitrole; bisphenol A | 5 | 114576106 | 114679581 | Rat | 131 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 8831853 | Ift74 | intraflagellar transport 74 | ENCODES a protein that exhibits beta-tubulin binding (ortholog); chromatin binding (ortholog); INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); epidermis development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystro phy (ortholog); autism spectrum disorder (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN centriolar satellite (ortholog); centrosome (ortholog); ciliary basal body (ortholog) | NW_004955472 | 7779705 | 7872423 | Chinchilla | 47 | description | gene, protein-coding, MODEL [RefSeq] |
| 12006693 | IFT74 | intraflagellar transport 74 | ENCODES a protein that exhibits beta-tubulin binding (inferred); chromatin binding (inferred); INVOLVED IN determination of left/right symmetry (ortholog); epidermis development (ortholog); heart development (ortholog); ASSOCIATED WITH asphyxiating thoracic dyst rophy (ortholog); autism spectrum disorder (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN centriolar satellite (inferred); centrosome (inferred); ciliary basal body (inferred) | 9 | 26802459 | 26912292 | Bonobo | 54 | description | gene, protein-coding, MODEL [RefSeq] |
| 12418796 | IFT74 | intraflagellar transport 74 | ENCODES a protein that exhibits beta-tubulin binding (inferred); chromatin binding (inferred); INVOLVED IN determination of left/right symmetry (ortholog); epidermis development (ortholog); heart development (ortholog); ASSOCIATED WITH asphyxiating thoracic dyst rophy (ortholog); autism spectrum disorder (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN centriolar satellite (inferred); centrosome (inferred); ciliary basal body (inferred) | 11 | 45159124 | 45242019 | Dog | 55 | description | gene, protein-coding, MODEL [RefSeq] |
| 12577551 | Ift74 | intraflagellar transport 74 | ENCODES a protein that exhibits beta-tubulin binding (inferred); chromatin binding (inferred); INVOLVED IN determination of left/right symmetry (ortholog); epidermis development (ortholog); heart development (ortholog); ASSOCIATED WITH asphyxiating thoracic dyst rophy (ortholog); autism spectrum disorder (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN centriolar satellite (inferred); centrosome (inferred); ciliary basal body (inferred) | NW_004936611 | 2588711 | 2660496 | Squirrel | 54 | description | gene, protein-coding, MODEL [RefSeq] |
| 13881676 | IFT74 | intraflagellar transport 74 | ENCODES a protein that exhibits beta-tubulin binding (inferred); chromatin binding (inferred); INVOLVED IN determination of left/right symmetry (ortholog); epidermis development (ortholog); heart development (ortholog); ASSOCIATED WITH asphyxiating thoracic dyst rophy (ortholog); autism spectrum disorder (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN centriolar satellite (inferred); centrosome (inferred); ciliary basal body (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 56 | description | gene, protein-coding, MODEL [RefSeq] |
| 18906375 | Ift74 | intraflagellar transport 74 | ENCODES a protein that exhibits chromatin binding (ortholog); INVOLVED IN determination of left/right symmetry (ortholog); epidermis development (ortholog); heart development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); autism spectrum disorder (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN centriolar satellite (ortholog); centrosome (ortholog); ciliary basal body (ortholog) | | | | Naked Mole-Rat | 49 | description | gene, protein-coding, MODEL [RefSeq] |
| 598133202 | IFT74 | intraflagellar transport 74 | ENCODES a protein that exhibits beta-tubulin binding (inferred); chromatin binding (inferred); INVOLVED IN determination of left/right symmetry (ortholog); epidermis development (ortholog); heart development (ortholog); ASSOCIATED WITH asphyxiating thoracic dyst rophy (ortholog); autism spectrum disorder (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN centriolar satellite (inferred); centrosome (inferred); ciliary basal body (inferred) | | | | Green Monkey | 54 | description | gene, protein-coding, MODEL [RefSeq] |
| 1606252 | IFT80 | intraflagellar transport 80 | The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010] | 3 | 160256986 | 160399225 | Human | 290 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 727862 | Ift81 | intraflagellar transport 81 | ENCODES a protein that exhibits tubulin binding (ortholog); INVOLVED IN cilium assembly (ortholog); intraciliary transport involved in cilium assembly (ortholog); regulation of smoothened signaling pathway (ortholog); ASSOCIATED WITH asphyxiating thoracic dystro phy (ortholog); ciliopathy (ortholog); Desbuquois dysplasia (ortholog); FOUND IN centriole (ortholog); centrosome (ortholog); ciliary basal body (ortholog); INTERACTS WITH 2,5-hexanedione; 4-amino-2,6-dinitrotoluene; alpha-Zearalanol | 12 | 39618559 | 39697971 | Rat | 129 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8810772 | Ift81 | intraflagellar transport 81 | ENCODES a protein that exhibits tubulin binding (ortholog); INVOLVED IN cilium assembly (ortholog); intraciliary transport involved in cilium assembly (ortholog); regulation of smoothened signaling pathway (ortholog); ASSOCIATED WITH asphyxiating thoracic dystro phy (ortholog); ciliopathy (ortholog); Desbuquois dysplasia (ortholog); FOUND IN centriole (ortholog); centrosome (ortholog); ciliary basal body (ortholog) | NW_004955482 | 7114639 | 7182378 | Chinchilla | 36 | description | gene, protein-coding, MODEL [RefSeq] |
| 11866989 | IFT81 | intraflagellar transport 81 | ENCODES a protein that exhibits tubulin binding (inferred); INVOLVED IN cell differentiation (inferred); cell projection organization (inferred); cilium assembly (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); ciliopathy (ortholog); Desbu quois dysplasia (ortholog); FOUND IN centriole (inferred); centrosome (inferred); ciliary basal body (inferred) | 12 | 107659663 | 107794066 | Bonobo | 49 | description | gene, protein-coding, MODEL [RefSeq] |
| 12412263 | IFT81 | intraflagellar transport 81 | ENCODES a protein that exhibits tubulin binding (inferred); INVOLVED IN cell differentiation (inferred); cell projection organization (inferred); cilium assembly (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); ciliopathy (ortholog); Desbu quois dysplasia (ortholog); FOUND IN ciliary basal body (ortholog) | 26 | 8017315 | 8123972 | Dog | 50 | description | gene, protein-coding, MODEL [RefSeq] |
| 12529591 | Ift81 | intraflagellar transport 81 | ENCODES a protein that exhibits tubulin binding (inferred); INVOLVED IN cell differentiation (inferred); cell projection organization (inferred); cilium assembly (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); ciliopathy (ortholog); Desbu quois dysplasia (ortholog); FOUND IN centriole (inferred); centrosome (inferred); ciliary basal body (inferred) | NW_004936558 | 3177418 | 3251439 | Squirrel | 49 | description | gene, protein-coding, MODEL [RefSeq] |
| 13852676 | IFT81 | intraflagellar transport 81 | ENCODES a protein that exhibits tubulin binding (inferred); INVOLVED IN cell differentiation (inferred); cell projection organization (inferred); cilium assembly (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); ciliopathy (ortholog); Desbu quois dysplasia (ortholog); FOUND IN ciliary basal body (ortholog) | | | | Pig | 50 | description | gene, protein-coding, MODEL [RefSeq] |
| 18504703 | IFT81 | intraflagellar transport 81 | ENCODES a protein that exhibits tubulin binding (inferred); INVOLVED IN cell differentiation (inferred); cell projection organization (inferred); cilium assembly (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); ciliopathy (ortholog); Desbu quois dysplasia (ortholog); FOUND IN centriole (inferred); centrosome (inferred); ciliary basal body (inferred) | | | | Green Monkey | 49 | description | gene, protein-coding, MODEL [RefSeq] |
| 18907378 | Ift81 | intraflagellar transport 81 | ENCODES a protein that exhibits tubulin binding (inferred); INVOLVED IN intraciliary transport involved in cilium assembly (ortholog); regulation of smoothened signaling pathway (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); ciliopathy ( ortholog); Desbuquois dysplasia (ortholog); FOUND IN ciliary basal body (ortholog); intraciliary transport particle A (ortholog) | | | | Naked Mole-Rat | 47 | description | gene, protein-coding, MODEL [RefSeq] |
| 625929722 | Ift81 | intraflagellar transport 81 | ENCODES a protein that exhibits tubulin binding (ortholog); INVOLVED IN cilium assembly (ortholog); intraciliary transport involved in cilium assembly (ortholog); regulation of smoothened signaling pathway (ortholog); ASSOCIATED WITH asphyxiating thoracic dystro phy (ortholog); ciliopathy (ortholog); Desbuquois dysplasia (ortholog); FOUND IN centriole (ortholog); centrosome (ortholog); ciliary basal body (ortholog) | | | | Black Rat | 36 | description | gene, protein-coding, MODEL [RefSeq] |
| 1309717 | Ift88 | intraflagellar transport 88 | ENCODES a protein that exhibits kinesin binding (ortholog); INVOLVED IN response to silicon dioxide; animal organ morphogenesis (ortholog); anterior/posterior pattern specification (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH silicosis; asph /span>yxiating thoracic dystrophy (ortholog); autosomal recessive polycystic kidney disease (ortholog); FOUND IN outer acrosomal membrane; trans-Golgi network; acrosomal membrane (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; amphetamine; bisphenol A | 15 | 35685678 | 35786875 | Rat | 171 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8845720 | Ift88 | intraflagellar transport 88 | ENCODES a protein that exhibits kinesin binding (ortholog); INVOLVED IN animal organ morphogenesis (ortholog); anterior/posterior pattern specification (ortholog); brain development (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxia ting thoracic dystrophy (ortholog); autosomal recessive polycystic kidney disease (ortholog); basal cell carcinoma (ortholog); FOUND IN acrosomal membrane (ortholog); axonemal basal plate (ortholog); axoneme (ortholog) | NW_004955497 | 1338959 | 1454788 | Chinchilla | 123 | description | gene, protein-coding, MODEL [RefSeq] |
| 11946870 | IFT88 | intraflagellar transport 88 | ENCODES a protein that exhibits kinesin binding (inferred); INVOLVED IN animal organ morphogenesis (ortholog); anterior/posterior pattern specification (ortholog); brain development (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxia ting thoracic dystrophy (ortholog); autosomal recessive polycystic kidney disease (ortholog); basal cell carcinoma (ortholog); FOUND IN acrosomal membrane (ortholog); axonemal basal plate (ortholog); axoneme (ortholog) | 13 | 1893102 | 2017771 | Bonobo | 130 | description | gene, protein-coding, MODEL [RefSeq] |
| 12287172 | IFT88 | intraflagellar transport 88 | INVOLVED IN animal organ morphogenesis (ortholog); anterior/posterior pattern specification (ortholog); brain development (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); autosomal recessive poly cystic kidney disease (ortholog); basal cell carcinoma (ortholog); FOUND IN acrosomal membrane (ortholog); axonemal basal plate (ortholog); axoneme (ortholog) | 25 | 17414965 | 17551405 | Dog | 132 | description | gene, protein-coding, MODEL [RefSeq] |
| 12583212 | Ift88 | intraflagellar transport 88 | ENCODES a protein that exhibits kinesin binding (inferred); INVOLVED IN animal organ morphogenesis (ortholog); anterior/posterior pattern specification (ortholog); brain development (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxia ting thoracic dystrophy (ortholog); autosomal recessive polycystic kidney disease (ortholog); basal cell carcinoma (ortholog); FOUND IN acrosomal membrane (ortholog); axonemal basal plate (ortholog); axoneme (ortholog) | NW_004936720 | 1041216 | 1168725 | Squirrel | 130 | description | gene, protein-coding, MODEL [RefSeq] |
| 13944055 | IFT88 | intraflagellar transport 88 | INVOLVED IN animal organ morphogenesis (ortholog); anterior/posterior pattern specification (ortholog); brain development (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); autosomal recessive poly cystic kidney disease (ortholog); basal cell carcinoma (ortholog); FOUND IN acrosomal membrane (ortholog); axonemal basal plate (ortholog); axoneme (ortholog); INTERACTS WITH deoxynivalenol | | | | Pig | 133 | description | gene, protein-coding, MODEL [RefSeq] |
| 18371860 | IFT88 | intraflagellar transport 88 | ENCODES a protein that exhibits kinesin binding (inferred); INVOLVED IN animal organ morphogenesis (ortholog); anterior/posterior pattern specification (ortholog); brain development (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxia ting thoracic dystrophy (ortholog); autosomal recessive polycystic kidney disease (ortholog); basal cell carcinoma (ortholog); FOUND IN acrosomal membrane (ortholog); axonemal basal plate (ortholog); axoneme (ortholog) | | | | Green Monkey | 130 | description | gene, protein-coding, MODEL [RefSeq] |
| 18915102 | Ift88 | intraflagellar transport 88 | ENCODES a protein that exhibits kinesin binding (inferred); INVOLVED IN animal organ morphogenesis (ortholog); anterior/posterior pattern specification (ortholog); brain development (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxia ting thoracic dystrophy (ortholog); autosomal recessive polycystic kidney disease (ortholog); basal cell carcinoma (ortholog); FOUND IN acrosomal membrane (ortholog); axonemal basal plate (ortholog); axoneme (ortholog) | | | | Naked Mole-Rat | 130 | description | gene, protein-coding, MODEL [RefSeq] |
| 625867491 | Ift88 | intraflagellar transport 88 | ENCODES a protein that exhibits kinesin binding (ortholog); INVOLVED IN animal organ morphogenesis (ortholog); anterior/posterior pattern specification (ortholog); brain development (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxia ting thoracic dystrophy (ortholog); autosomal recessive polycystic kidney disease (ortholog); basal cell carcinoma (ortholog); FOUND IN acrosomal membrane (ortholog); axonemal basal plate (ortholog); axoneme (ortholog) | | | | Black Rat | 123 | description | gene, protein-coding, MODEL [RefSeq] |
| 1309446 | Intu | inturned planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (ortholog); INVOLVED IN cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); hair follicle morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuqu ois dysplasia (ortholog); genetic disease (ortholog); FOUND IN centriole (ortholog); ciliary basal body (ortholog); ciliary transition zone (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; bisphenol A; Cuprizon | 2 | 125528965 | 125613295 | Rat | 129 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1319793 | INTU | inturned planar cell polarity protein | Predicted to enable phosphatidylinositol binding activity. Involved in embryonic digit morphogenesis; roof of mouth development; and tongue morphogenesis. Located in several cellular components, including ciliary basal body; cytosol; and motile cilium. Implicated in asph phyxiating thoracic dystrophy and orofaciodigital syndrome XVII. [provided by Alliance of Genome Resources, Apr 2025] | 4 | 127632957 | 127726737 | Human | 243 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1551267 | Intu | inturned planar cell polarity protein | Enables phosphatidylinositol binding activity. Involved in several processes, including cilium assembly; limb development; and regulation of smoothened signaling pathway. Acts upstream of or within several processes, including cilium assembly; hair follicle morphogenesis; and nervous system developm ent. Located in centriole; ciliary transition zone; and cytoplasm. Is expressed in central nervous system and retina. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy and orofaciodigital syndrome XVII. Orthologous to human INTU (inturned planar cell polarity protein). [provided by Alliance of Genome Resources, Jul 2025] | 3 | 40585559 | 40659206 | Mouse | 158 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 9019833 | Intu | inturned planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (ortholog); INVOLVED IN cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); hair follicle morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuqu ois dysplasia (ortholog); genetic disease (ortholog); FOUND IN centriole (ortholog); ciliary basal body (ortholog); ciliary transition zone (ortholog) | NW_004955428 | 13670756 | 13743030 | Chinchilla | 41 | description | gene, protein-coding, MODEL [RefSeq] |
| 11901193 | INTU | inturned planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (inferred); INVOLVED IN cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); hair follicle morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuqu ois dysplasia (ortholog); genetic disease (ortholog); FOUND IN cell surface (inferred); centriole (inferred); ciliary basal body (inferred) | 4 | 119793245 | 119890949 | Bonobo | 50 | description | gene, protein-coding, MODEL [RefSeq] |
| 12203693 | INTU | inturned planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (inferred); INVOLVED IN cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); hair follicle morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuqu ois dysplasia (ortholog); genetic disease (ortholog); FOUND IN cell surface (inferred); centriole (inferred); ciliary basal body (inferred) | 19 | 13193252 | 13276593 | Dog | 50 | description | gene, protein-coding, MODEL [RefSeq] |
| 12592153 | Intu | inturned planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (inferred); INVOLVED IN cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); hair follicle morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuqu ois dysplasia (ortholog); genetic disease (ortholog); FOUND IN cell surface (inferred); centriole (inferred); ciliary basal body (inferred) | NW_004936642 | 2950197 | 3025079 | Squirrel | 50 | description | gene, protein-coding, MODEL [RefSeq] |
| 14142771 | INTU | inturned planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (inferred); INVOLVED IN cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); hair follicle morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuqu ois dysplasia (ortholog); genetic disease (ortholog); FOUND IN cell surface (inferred); centriole (inferred); ciliary basal body (inferred) | | | | Pig | 50 | description | gene, protein-coding, MODEL [RefSeq] |
| 18471426 | INTU | inturned planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (inferred); INVOLVED IN cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); hair follicle morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuqu ois dysplasia (ortholog); genetic disease (ortholog); FOUND IN cell surface (inferred); centriole (inferred); ciliary basal body (inferred) | | | | Green Monkey | 50 | description | gene, protein-coding, MODEL [RefSeq] |
| 18911590 | Intu | inturned planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (ortholog); INVOLVED IN cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); hair follicle morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuqu ois dysplasia (ortholog); genetic disease (ortholog); FOUND IN centriole (ortholog); ciliary basal body (ortholog); ciliary transition zone (ortholog) | | | | Naked Mole-Rat | 48 | description | gene, protein-coding, MODEL [RefSeq] |
| 626122342 | Intu | inturned planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (ortholog); INVOLVED IN cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); hair follicle morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuqu ois dysplasia (ortholog); genetic disease (ortholog); FOUND IN centriole (ortholog); ciliary basal body (ortholog); ciliary transition zone (ortholog) | | | | Black Rat | 41 | description | gene, protein-coding, MODEL [RefSeq] |
| 8993560 | Jun | Jun proto-oncogene, AP-1 transcription factor subunit | ENCODES a protein that exhibits cAMP response element binding (ortholog); chromatin binding (ortholog); DNA binding (ortholog); INVOLVED IN angiogenesis (ortholog); axon regeneration (ortholog); cellular response to anisomycin (ortholog); PARTICIPATES IN adenosine signaling pathway; endothelin signa ling pathway; fibroblast growth factor signaling pathway; ASSOCIATED WITH Alcohol-Related Disorders (ortholog); angiosarcoma (ortholog); Asphyxia (ortholog); FOUND IN chromatin (ortholog); euchromatin (ortholog); nucleoplasm (ortholog) | NW_004955464 | 1107598 | 1110326 | Chinchilla | 247 | description | gene, protein-coding, MODEL [RefSeq] |
| 11679113 | JUN | Jun proto-oncogene, AP-1 transcription factor subunit | ENCODES a protein that exhibits cAMP response element binding (ortholog); chromatin binding (ortholog); DNA binding (ortholog); INVOLVED IN angiogenesis (ortholog); axon regeneration (ortholog); cellular response to anisomycin (ortholog); PARTICIPATES IN adenosine signaling pathway; endothelin signa ling pathway; fibroblast growth factor signaling pathway; ASSOCIATED WITH Alcohol-Related Disorders (ortholog); angiosarcoma (ortholog); Asphyxia (ortholog); FOUND IN chromatin (ortholog); euchromatin (ortholog); nucleoplasm (ortholog) | 1 | 58042794 | 58045536 | Bonobo | 247 | description | gene, protein-coding, MODEL [RefSeq] |
| 12374086 | JUN | Jun proto-oncogene, AP-1 transcription factor subunit | ENCODES a protein that exhibits chromatin binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); DNA-binding transcription factor activity (ortholog); INVOLVED IN angiogenesis (ortholog); axon regeneration (ortholog); cellular response to anisomycin (ortholog); PARTICIPATES IN adenosine signaling pathway; endothelin signaling pathway; fibroblast growth factor signaling pathway; ASSOCIATED WITH Alcohol-Related Disorders (ortholog); angiosarcoma (ortholog); Asphyxia (ortholog); FOUND IN chromatin (ortholog); nucleus (ortholog); protein-containing complex (ortholog); INTERACTS WITH anthra[1,9-cd]pyrazol-6(2H)-one; masitinib; sodium chloride | 5 | 50966698 | 50968939 | Dog | 245 | description | gene, protein-coding, MODEL [RefSeq] |
| 12726986 | Jun | Jun proto-oncogene, AP-1 transcription factor subunit | ENCODES a protein that exhibits DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); DNA-binding transcription factor activity (ortholog); DNA-binding transcription factor activity, RNA polymerase II-specific (ortholog); INVOLVED IN angiogenesis (ortholog); axon regen eration (ortholog); cellular response to calcium ion (ortholog); PARTICIPATES IN adenosine signaling pathway; endothelin signaling pathway; fibroblast growth factor signaling pathway; ASSOCIATED WITH Alcohol-Related Disorders (ortholog); angiosarcoma (ortholog); Asphyxia (ortholog); FOUND IN chromatin (ortholog); nucleus (ortholog); protein-containing complex (ortholog) | NW_004936522 | 3034364 | 3037632 | Squirrel | 244 | description | gene, protein-coding, MODEL [RefSeq] |
| 14217642 | JUN | Jun proto-oncogene, AP-1 transcription factor subunit | ENCODES a protein that exhibits DNA binding; DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); DNA-binding transcription factor activity (ortholog); INVOLVED IN cellular response to lipopolysaccharide; immune response; positive regulation of DNA-templated transcrip tion; PARTICIPATES IN adenosine signaling pathway; endothelin signaling pathway; fibroblast growth factor signaling pathway; ASSOCIATED WITH Alcohol-Related Disorders (ortholog); angiosarcoma (ortholog); Asphyxia (ortholog); FOUND IN nucleus; chromatin (ortholog); protein-containing complex (ortholog); INTERACTS WITH cadmium atom; cadmium dichloride; clofibrate | | | | Pig | 263 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 18379433 | JUN | Jun proto-oncogene, AP-1 transcription factor subunit | ENCODES a protein that exhibits chromatin binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); DNA-binding transcription factor activity (ortholog); INVOLVED IN angiogenesis (ortholog); axon regeneration (ortholog); cellular response to anisomycin (ortholog); PARTICIPATES IN adenosine signaling pathway; endothelin signaling pathway; fibroblast growth factor signaling pathway; ASSOCIATED WITH Alcohol-Related Disorders (ortholog); angiosarcoma (ortholog); Asphyxia (ortholog); FOUND IN chromatin (ortholog); nucleus (ortholog); protein-containing complex (ortholog) | | | | Green Monkey | 242 | description | gene, protein-coding, MODEL [RefSeq] |
| 18922095 | Jun | Jun proto-oncogene, AP-1 transcription factor subunit | ENCODES a protein that exhibits cAMP response element binding (ortholog); chromatin binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); INVOLVED IN angiogenesis (ortholog); axon regeneration (ortholog); cellular response to anisomycin (ortholog); PARTICIPATES IN adenosine signaling pathway; endothelin signaling pathway; fibroblast growth factor signaling pathway; ASSOCIATED WITH Alcohol-Related Disorders (ortholog); angiosarcoma (ortholog); Asphyxia (ortholog); FOUND IN chromatin (ortholog); euchromatin (ortholog); nucleoplasm (ortholog) | | | | Naked Mole-Rat | 252 | description | gene, protein-coding, MODEL [RefSeq] |
| 625853152 | Jun | Jun proto-oncogene, AP-1 transcription factor subunit | ENCODES a protein that exhibits cAMP response element binding (ortholog); chromatin binding (ortholog); DNA binding (ortholog); INVOLVED IN angiogenesis (ortholog); axon regeneration (ortholog); cellular response to anisomycin (ortholog); PARTICIPATES IN adenosine signaling pathway; endothelin signa ling pathway; fibroblast growth factor signaling pathway; ASSOCIATED WITH Alcohol-Related Disorders (ortholog); angiosarcoma (ortholog); Asphyxia (ortholog); FOUND IN chromatin (ortholog); euchromatin (ortholog); nucleoplasm (ortholog) | | | | Black Rat | 247 | description | gene, protein-coding, MODEL [RefSeq] |
| 1585176 | Kiaa0586 | KIAA0586 homolog | INVOLVED IN cilium assembly (ortholog); regulation of establishment of protein localization (ortholog); smoothened signaling pathway (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); cerebellar hypoplasia (ortholog); cone-rod dystrophy (ort holog); FOUND IN centrosome (ortholog); ciliary basal body (ortholog); INTERACTS WITH bisphenol A; (-)-epigallocatechin 3-gallate (ortholog); all-trans-retinoic acid (ortholog) | 6 | 95358682 | 95461911 | Rat | 54 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8912504 | Kiaa0586 | KIAA0586 ortholog | INVOLVED IN cilium assembly (ortholog); regulation of establishment of protein localization (ortholog); smoothened signaling pathway (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); cerebellar hypoplasia (ortholog); cone-rod dystrophy (ort holog); FOUND IN centrosome (ortholog); ciliary basal body (ortholog) | NW_004955466 | 12125559 | 12240991 | Chinchilla | 25 | description | gene, protein-coding, MODEL [RefSeq] |
| 12008568 | KIAA0586 | KIAA0586 ortholog | INVOLVED IN cilium assembly (ortholog); regulation of establishment of protein localization (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); cerebellar hypoplasia (ortholog); cone-rod dystrophy (ortholog); FOUND IN centrosome (ortholog) | 14 | 39019518 | 39139460 | Bonobo | 28 | description | gene, protein-coding, MODEL [RefSeq] |
| 12146317 | KIAA0586 | KIAA0586 | INVOLVED IN cilium assembly (ortholog); regulation of establishment of protein localization (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); cerebellar hypoplasia (ortholog); cone-rod dystrophy (ortholog); FOUND IN centrosome (ortholog); c iliary basal body (ortholog) | 8 | 33771357 | 33880910 | Dog | 29 | description | gene, protein-coding, MODEL [RefSeq] |
| 12599780 | Kiaa0586 | KIAA0586 ortholog | INVOLVED IN cilium assembly (ortholog); regulation of establishment of protein localization (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); cerebellar hypoplasia (ortholog); cone-rod dystrophy (ortholog); FOUND IN centrosome (ortholog) | NW_004936495 | 2799738 | 2933157 | Squirrel | 28 | description | gene, protein-coding, MODEL [RefSeq] |
| 14256538 | KIAA0586 | KIAA0586 | INVOLVED IN cilium assembly (ortholog); regulation of establishment of protein localization (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); cerebellar hypoplasia (ortholog); cone-rod dystrophy (ortholog); FOUND IN centrosome (ortholog); c iliary basal body (ortholog) | | | | Pig | 29 | description | gene, protein-coding, MODEL [RefSeq] |
| 18636629 | KIAA0586 | KIAA0586 ortholog | INVOLVED IN cilium assembly (ortholog); regulation of establishment of protein localization (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); cerebellar hypoplasia (ortholog); cone-rod dystrophy (ortholog); FOUND IN centrosome (ortholog) | | | | Green Monkey | 28 | description | gene, protein-coding, MODEL [RefSeq] |
| 18927628 | Kiaa0586 | KIAA0586 ortholog | INVOLVED IN cilium assembly (ortholog); regulation of establishment of protein localization (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); cerebellar hypoplasia (ortholog); cone-rod dystrophy (ortholog); FOUND IN centrosome (ortholog) | | | | Naked Mole-Rat | 27 | description | gene, protein-coding, MODEL [RefSeq] |
| 626083633 | Kiaa0586 | KIAA0586 ortholog | INVOLVED IN cilium assembly (ortholog); regulation of establishment of protein localization (ortholog); smoothened signaling pathway (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); cerebellar hypoplasia (ortholog); cone-rod dystrophy (ort holog); FOUND IN centrosome (ortholog); ciliary basal body (ortholog) | | | | Black Rat | 25 | description | gene, protein-coding, MODEL [RefSeq] |
| 8729417 | Kiaa0753 | KIAA0753 ortholog | INVOLVED IN cilium assembly (ortholog); cytosolic ciliogenesis (ortholog); protein localization to centrosome (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN centriolar satellite (ortholog); centrosome (ortholog) | NW_004955467 | 12074413 | 12144672 | Chinchilla | 19 | description | gene, protein-coding, MODEL [RefSeq] |
| 11849999 | KIAA0753 | KIAA0753 ortholog | INVOLVED IN centriole replication (inferred); cilium assembly (inferred); cytosolic ciliogenesis (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN centriolar satellite (i nferred); centrosome (inferred); microtubule organizing center (inferred) | 17 | 6615903 | 6678233 | Bonobo | 24 | description | gene, protein-coding, MODEL [RefSeq] |
| 12055166 | KIAA0753 | KIAA0753 | INVOLVED IN centriole replication (inferred); cilium assembly (inferred); cytosolic ciliogenesis (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN centriolar satellite (i nferred); centrosome (inferred) | 5 | 30708361 | 30749773 | Dog | 23 | description | gene, protein-coding, MODEL [RefSeq] |
| 12637646 | Kiaa0753 | KIAA0753 ortholog | INVOLVED IN centriole replication (inferred); cilium assembly (inferred); cytosolic ciliogenesis (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN centriolar satellite (i nferred); centrosome (inferred); microtubule organizing center (inferred) | NW_004936677 | 1354601 | 1415462 | Squirrel | 24 | description | gene, protein-coding, MODEL [RefSeq] |
| 13903881 | KIAA0753 | KIAA0753 ortholog | ENCODES a protein that exhibits lipid binding (inferred); metal ion binding (inferred); phospholipid transporter activity (inferred); INVOLVED IN cilium assembly (ortholog); cytosolic ciliogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (orth olog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN centriolar satellite (ortholog); centrosome (ortholog) | | | | Pig | 28 | description | gene, protein-coding, MODEL [RefSeq] |
| 18791915 | KIAA0753 | KIAA0753 ortholog | INVOLVED IN centriole replication (inferred); cilium assembly (inferred); cytosolic ciliogenesis (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN centriolar satellite (i nferred); centrosome (inferred); microtubule organizing center (inferred) | | | | Green Monkey | 24 | description | gene, protein-coding, MODEL [RefSeq] |
| 18925721 | Kiaa0753 | KIAA0753 ortholog | INVOLVED IN cilium assembly (ortholog); cytosolic ciliogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN centrosome (ortholog) | | | | Naked Mole-Rat | 22 | description | gene, protein-coding, MODEL [RefSeq] |
| 626049883 | Kiaa0753 | KIAA0753 ortholog | INVOLVED IN cilium assembly (ortholog); cytosolic ciliogenesis (ortholog); protein localization to centrosome (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN centriolar satellite (ortholog); centrosome (ortholog) | | | | Black Rat | 19 | description | gene, protein-coding, MODEL [RefSeq] |
| 1307723 | Kif24 | kinesin family member 24 | ENCODES a protein that exhibits identical protein binding (ortholog); microtubule motor activity (ortholog); INVOLVED IN cilium assembly (ortholog); microtubule depolymerization (ortholog); negative regulation of cilium assembly (ortholog); ASSOCIATED WITH asphy xiating thoracic dystrophy 3 (ortholog); neuropathy (ortholog); FOUND IN centriole (ortholog); centrosome (ortholog); protein-containing complex (ortholog); INTERACTS WITH 1-naphthyl isothiocyanate; 2,3,7,8-tetrachlorodibenzodioxine; bisphenol A | 5 | 61357078 | 61423882 | Rat | 89 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8846931 | Kif24 | kinesin family member 24 | ENCODES a protein that exhibits identical protein binding (ortholog); microtubule motor activity (ortholog); INVOLVED IN cilium assembly (ortholog); microtubule depolymerization (ortholog); negative regulation of cilium assembly (ortholog); ASSOCIATED WITH asphy xiating thoracic dystrophy 3 (ortholog); neuropathy (ortholog); FOUND IN centriole (ortholog); centrosome (ortholog); protein-containing complex (ortholog) | NW_004955472 | 1774850 | 1868525 | Chinchilla | 17 | description | gene, protein-coding, MODEL [RefSeq] |
| 11744006 | KIF24 | kinesin family member 24 | ENCODES a protein that exhibits ATP binding (inferred); cytoskeletal motor activity (inferred); identical protein binding (inferred); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); microtubule depolymerization (inferred); ASSOCIATED WITH asph ;'>asphyxiating thoracic dystrophy 3 (ortholog); neuropathy (ortholog); FOUND IN centriole (inferred); centrosome (inferred); cytoskeleton (inferred) | 9 | 34088760 | 34165306 | Bonobo | 34 | description | gene, protein-coding, MODEL [RefSeq] |
| 12426215 | KIF24 | kinesin family member 24 | ENCODES a protein that exhibits ATP binding (inferred); cytoskeletal motor activity (inferred); identical protein binding (inferred); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); microtubule depolymerization (inferred); ASSOCIATED WITH asph ;'>asphyxiating thoracic dystrophy 3 (ortholog); neuropathy (ortholog); FOUND IN centriole (inferred); centrosome (inferred); cytoskeleton (inferred) | 11 | 50974376 | 51049862 | Dog | 34 | description | gene, protein-coding, MODEL [RefSeq] |
| 12494082 | Kif24 | kinesin family member 24 | ENCODES a protein that exhibits ATP binding (inferred); cytoskeletal motor activity (inferred); identical protein binding (inferred); INVOLVED IN cilium assembly (inferred); microtubule depolymerization (inferred); microtubule-based movement (inferred); ASSOCIATED WITH asph >asphyxiating thoracic dystrophy 3 (ortholog); neuropathy (ortholog); FOUND IN centriole (inferred); centrosome (inferred); cytoskeleton (inferred) | NW_004936524 | 2375133 | 2417096 | Squirrel | 32 | description | gene, protein-coding, MODEL [RefSeq] |
| 14277131 | KIF24 | kinesin family member 24 | ENCODES a protein that exhibits ATP binding (inferred); cytoskeletal motor activity (inferred); identical protein binding (inferred); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); microtubule depolymerization (inferred); ASSOCIATED WITH asph ;'>asphyxiating thoracic dystrophy 3 (ortholog); neuropathy (ortholog); FOUND IN centriole (inferred); centrosome (inferred); microtubule (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 34 | description | gene, protein-coding, MODEL [RefSeq] |
| 18484728 | KIF24 | kinesin family member 24 | ENCODES a protein that exhibits ATP binding (inferred); cytoskeletal motor activity (inferred); identical protein binding (inferred); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); microtubule depolymerization (inferred); ASSOCIATED WITH asph ;'>asphyxiating thoracic dystrophy 3 (ortholog); neuropathy (ortholog); FOUND IN centriole (inferred); centrosome (inferred); microtubule (inferred) | | | | Green Monkey | 33 | description | gene, protein-coding, MODEL [RefSeq] |
| 18930791 | Kif24 | kinesin family member 24 | ENCODES a protein that exhibits identical protein binding (ortholog); INVOLVED IN cilium assembly (ortholog); negative regulation of cilium assembly (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); neuropathy (ortholog); FOUND IN centros ome (ortholog); protein-containing complex (ortholog) | | | | Naked Mole-Rat | 30 | description | gene, protein-coding, MODEL [RefSeq] |
| 625874326 | Kif24 | kinesin family member 24 | ENCODES a protein that exhibits identical protein binding (ortholog); microtubule motor activity (ortholog); INVOLVED IN cilium assembly (ortholog); microtubule depolymerization (ortholog); negative regulation of cilium assembly (ortholog); ASSOCIATED WITH asphy xiating thoracic dystrophy 3 (ortholog); neuropathy (ortholog); FOUND IN centriole (ortholog); centrosome (ortholog); protein-containing complex (ortholog) | | | | Black Rat | 17 | description | gene, protein-coding, MODEL [RefSeq] |
| 3044 | Map2 | microtubule-associated protein 2 | ENCODES a protein that exhibits actin binding; microtubule binding; protein kinase binding; INVOLVED IN negative regulation of axon extension; negative regulation of microtubule depolymerization; negative regulation of microtubule polymerization; ASSOCIATED WITH Alzheimer's disease; arteriovenous ma lformation; asphyxia neonatorum; FOUND IN actin cytoskeleton; apical distal dendrite; axon hillock; INTERACTS WITH (S)-3,5-dihydroxyphenylglycine; 1-naphthyl isothiocyanate; 2,3,7,8-Tetrachlorodibenzofuran | 9 | 75173038 | 75431606 | Rat | 405 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 9048370 | Map2 | microtubule associated protein 2 | ENCODES a protein that exhibits actin binding (ortholog); dystroglycan binding (ortholog); microtubule binding (ortholog); INVOLVED IN axonogenesis (ortholog); central nervous system neuron development (ortholog); dendrite development (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); arter iovenous malformation (ortholog); asphyxia neonatorum (ortholog); FOUND IN actin cytoskeleton (ortholog); apical dendrite (ortholog); apical distal dendrite (ortholog) | NW_004955457 | 5678826 | 5816114 | Chinchilla | 108 | description | gene, protein-coding, MODEL [RefSeq] |
| 12021678 | MAP2 | microtubule associated protein 2 | ENCODES a protein that exhibits actin binding (ortholog); protein kinase binding (ortholog); SH2 domain binding (ortholog); INVOLVED IN axonogenesis (ortholog); dendrite development (ortholog); establishment of cell polarity (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); arteriovenous m alformation (ortholog); asphyxia neonatorum (ortholog); FOUND IN actin cytoskeleton (ortholog); apical dendrite (ortholog); apical distal dendrite (ortholog) | 2B | 96681268 | 96991650 | Bonobo | 109 | description | gene, protein-coding, MODEL [RefSeq] |
| 12176173 | MAP2 | microtubule associated protein 2 | ENCODES a protein that exhibits actin binding (ortholog); protein kinase binding (ortholog); SH2 domain binding (ortholog); INVOLVED IN axonogenesis (ortholog); dendrite development (ortholog); establishment of cell polarity (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); arteriovenous m alformation (ortholog); asphyxia neonatorum (ortholog); FOUND IN actin cytoskeleton (ortholog); apical dendrite (ortholog); apical distal dendrite (ortholog) | 37 | 17316899 | 17611360 | Dog | 111 | description | gene, protein-coding, MODEL [RefSeq] |
| 12672435 | Map2 | microtubule associated protein 2 | ENCODES a protein that exhibits actin binding (ortholog); protein kinase binding (ortholog); SH2 domain binding (ortholog); INVOLVED IN axonogenesis (ortholog); dendrite development (ortholog); establishment of cell polarity (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); arteriovenous m alformation (ortholog); asphyxia neonatorum (ortholog); FOUND IN actin cytoskeleton (ortholog); apical dendrite (ortholog); apical distal dendrite (ortholog) | NW_004936845 | 475406 | 752600 | Squirrel | 109 | description | gene, protein-coding, MODEL [RefSeq] |
| 13952675 | MAP2 | microtubule associated protein 2 | ENCODES a protein that exhibits actin binding (ortholog); protein kinase binding (ortholog); SH2 domain binding (ortholog); INVOLVED IN axonogenesis (ortholog); dendrite development (ortholog); establishment of cell polarity (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); arteriovenous m alformation (ortholog); asphyxia neonatorum (ortholog); FOUND IN actin cytoskeleton (ortholog); apical dendrite (ortholog); apical distal dendrite (ortholog); INTERACTS WITH deoxynivalenol | | | | Pig | 112 | description | gene, protein-coding, MODEL [RefSeq] |
| 18529998 | MAP2 | microtubule associated protein 2 | ENCODES a protein that exhibits actin binding (ortholog); protein kinase binding (ortholog); SH2 domain binding (ortholog); INVOLVED IN axonogenesis (ortholog); dendrite development (ortholog); establishment of cell polarity (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); arteriovenous m alformation (ortholog); asphyxia neonatorum (ortholog); FOUND IN actin cytoskeleton (ortholog); apical dendrite (ortholog); apical distal dendrite (ortholog) | | | | Green Monkey | 109 | description | gene, protein-coding, MODEL [RefSeq] |
| 18900290 | Map2 | microtubule associated protein 2 | ENCODES a protein that exhibits actin binding (ortholog); dystroglycan binding (ortholog); protein kinase binding (ortholog); INVOLVED IN axonogenesis (ortholog); central nervous system neuron development (ortholog); dendrite development (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); ar teriovenous malformation (ortholog); asphyxia neonatorum (ortholog); FOUND IN actin cytoskeleton (ortholog); apical dendrite (ortholog); apical distal dendrite (ortholog) | | | | Naked Mole-Rat | 110 | description | gene, protein-coding, MODEL [RefSeq] |
| 625876586 | Map2 | microtubule associated protein 2 | ENCODES a protein that exhibits actin binding (ortholog); dystroglycan binding (ortholog); protein kinase binding (ortholog); INVOLVED IN axonogenesis (ortholog); central nervous system neuron development (ortholog); dendrite development (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); ar teriovenous malformation (ortholog); asphyxia neonatorum (ortholog); FOUND IN actin cytoskeleton (ortholog); apical dendrite (ortholog); apical distal dendrite (ortholog) | | | | Black Rat | 110 | description | gene, protein-coding, MODEL [RefSeq] |
| 1309375 | Nek1 | NIMA-related kinase 1 | ENCODES a protein that exhibits 14-3-3 protein binding (ortholog); kinase activity (ortholog); protein kinase activity (ortholog); INVOLVED IN cilium assembly (ortholog); DNA damage response (ortholog); kidney development (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrop hic lateral sclerosis type 24 (ortholog); asphyxiating thoracic dystrophy (ortholog); FOUND IN centriolar satellite (ortholog); centrosome (ortholog); cytoplasm (ortholog); INTERACTS WITH amitrole; bisphenol A; cadmium atom | 16 | 34009092 | 34137418 | Rat | 122 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1319691 | Nek1 | NIMA (never in mitosis gene a)-related expressed kinase 1 | Enables 14-3-3 protein binding activity. Involved in regulation of DNA damage checkpoint. Acts upstream of or within several processes, including DNA damage response; response to ionizing radiation; and spermatogenesis. Located in centrosome and nucleus. Is expressed in several structures, including ganglia; gut; hemolymphoid system gland; metanephros; and reproductive system. Used to study autosomal recessive polycystic kidney disease. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 24; asphyxiating thoracic dystrophy; orofaciodigital syndrome II; and short-rib thoracic dysplasia 6 with or without polydactyly. Orthologous to human NEK1 (NIMA related kinase 1). [provided by Alliance of Genome Resources, Jul 2025] | 8 | 61446184 | 61584383 | Mouse | 173 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8855100 | Nek1 | NIMA related kinase 1 | ENCODES a protein that exhibits 14-3-3 protein binding (ortholog); kinase activity (ortholog); protein kinase activity (ortholog); INVOLVED IN cilium assembly (ortholog); DNA damage response (ortholog); kidney development (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrop hic lateral sclerosis type 24 (ortholog); asphyxiating thoracic dystrophy (ortholog); FOUND IN centriolar satellite (ortholog); centrosome (ortholog); cytoplasm (ortholog) | NW_004955403 | 36710248 | 36878901 | Chinchilla | 41 | description | gene, protein-coding, MODEL [RefSeq] |
| 11901332 | NEK1 | NIMA related kinase 1 | ENCODES a protein that exhibits 14-3-3 protein binding (ortholog); INVOLVED IN DNA damage response (ortholog); kidney development (ortholog); multicellular organism growth (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 24 (ortholog); asph yle='font-weight:700;'>asphyxiating thoracic dystrophy (ortholog); FOUND IN centriolar satellite (inferred); centrosome (inferred); cytoplasm (inferred) | 4 | 161618181 | 161830332 | Bonobo | 51 | description | gene, protein-coding, MODEL [RefSeq] |
| 12411824 | NEK1 | NIMA related kinase 1 | ENCODES a protein that exhibits 14-3-3 protein binding (ortholog); INVOLVED IN DNA damage response (ortholog); kidney development (ortholog); multicellular organism growth (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 24 (ortholog); asph yle='font-weight:700;'>asphyxiating thoracic dystrophy (ortholog); FOUND IN centriolar satellite (inferred); centrosome (inferred); cytoplasm (inferred) | 25 | 20297190 | 20528537 | Dog | 51 | description | gene, protein-coding, MODEL [RefSeq] |
| 12647139 | Nek1 | NIMA related kinase 1 | ENCODES a protein that exhibits 14-3-3 protein binding (ortholog); INVOLVED IN DNA damage response (ortholog); kidney development (ortholog); multicellular organism growth (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 24 (ortholog); asph yle='font-weight:700;'>asphyxiating thoracic dystrophy (ortholog); FOUND IN centriolar satellite (inferred); centrosome (inferred); cytoplasm (inferred) | NW_004936516 | 1508800 | 1666841 | Squirrel | 51 | description | gene, protein-coding, MODEL [RefSeq] |
| 14266879 | NEK1 | NIMA related kinase 1 | ENCODES a protein that exhibits 14-3-3 protein binding (ortholog); INVOLVED IN DNA damage response (ortholog); kidney development (ortholog); multicellular organism growth (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 24 (ortholog); asph yle='font-weight:700;'>asphyxiating thoracic dystrophy (ortholog); FOUND IN centriolar satellite (inferred); centrosome (inferred); cytoplasm (inferred) | | | | Pig | 51 | description | gene, protein-coding, MODEL [RefSeq] |
| 18706344 | NEK1 | NIMA related kinase 1 | ENCODES a protein that exhibits 14-3-3 protein binding (ortholog); INVOLVED IN DNA damage response (ortholog); kidney development (ortholog); multicellular organism growth (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 24 (ortholog); asph yle='font-weight:700;'>asphyxiating thoracic dystrophy (ortholog); FOUND IN centriolar satellite (inferred); centrosome (inferred); cytoplasm (inferred) | | | | Green Monkey | 51 | description | gene, protein-coding, MODEL [RefSeq] |
| 18931002 | Nek1 | NIMA related kinase 1 | ENCODES a protein that exhibits 14-3-3 protein binding (ortholog); INVOLVED IN cilium assembly (ortholog); DNA damage response (ortholog); kidney development (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 24 (ortholog); asph ht:700;'>asphyxiating thoracic dystrophy (ortholog); FOUND IN centriolar satellite (ortholog); centrosome (ortholog); cytoplasm (ortholog) | | | | Naked Mole-Rat | 51 | description | gene, protein-coding, MODEL [RefSeq] |
| 625990481 | Nek1 | NIMA related kinase 1 | ENCODES a protein that exhibits 14-3-3 protein binding (ortholog); kinase activity (ortholog); protein kinase activity (ortholog); INVOLVED IN cilium assembly (ortholog); DNA damage response (ortholog); kidney development (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrop hic lateral sclerosis type 24 (ortholog); asphyxiating thoracic dystrophy (ortholog); FOUND IN centriolar satellite (ortholog); centrosome (ortholog); cytoplasm (ortholog) | | | | Black Rat | 41 | description | gene, protein-coding, MODEL [RefSeq] |
| 1308069 | Osbp | oxysterol binding protein | ENCODES a protein that exhibits lipid transfer activity (ortholog); phosphatidylinositol-4-phosphate binding (ortholog); phosphatidylinositol-4-phosphate-cholesterol exchange activity (ortholog); INVOLVED IN positive regulation of insulin secretion involved in cellular response to glucose stimulus; positive regulation of protein modification process; positive regulation of secretory granule organization; ASSOCIATED WITH Experimental Diabetes Mellitus; Perinatal Asphyxia; colorectal cancer (ortholog); FOUND IN cytoplasm (ortholog); cytosol (ortholog); endoplasmic reticulum membrane (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,4,6-trinitrotoluene; 3,3',5,5'-tetrabromobisphenol A | 1 | 218313455 | 218343263 | Rat | 123 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 68430 | Pdia3 | protein disulfide isomerase family A, member 3 | ENCODES a protein that exhibits MHC class I protein binding; peptidase activity; protein-disulfide reductase (glutathione) activity; INVOLVED IN cellular response to nonylphenol; cellular response to transforming growth factor beta stimulus; cellular response to vitamin D; PARTICIPATES IN antigen pr ocessing and presentation pathway; Endoplasmic Reticulum-associated degradation pathway; ASSOCIATED WITH asphyxia neonatorum; autoimmune hepatitis; Dehydration; FOUND IN acrosomal vesicle; apical plasma membrane; cell surface; INTERACTS WITH 1,3-dinitrobenzene; 17alpha-ethynylestradiol; 17beta-estradiol | 3 | 128841781 | 128865733 | Rat | 328 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8934594 | Pdia3 | protein disulfide isomerase family A member 3 | ENCODES a protein that exhibits identical protein binding (ortholog); lncRNA binding (ortholog); MHC class I protein binding (ortholog); INVOLVED IN cellular response to interleukin-7 (ortholog); cellular response to nonylphenol (ortholog); cellular response to transforming growth factor beta stimul us (ortholog); ASSOCIATED WITH Acute Coronary Syndrome (ortholog); asphyxia neonatorum (ortholog); autoimmune hepatitis (ortholog); FOUND IN acrosomal vesicle (ortholog); apical plasma membrane (ortholog); cell surface (ortholog) | NW_004955416 | 10197957 | 10221104 | Chinchilla | 77 | description | gene, protein-coding, MODEL [RefSeq] |
| 11670937 | PDIA3 | protein disulfide isomerase family A member 3 | ENCODES a protein that exhibits identical protein binding (ortholog); lncRNA binding (ortholog); MHC class I protein binding (ortholog); INVOLVED IN cellular response to interleukin-7 (ortholog); cellular response to nonylphenol (ortholog); cellular response to transforming growth factor beta stimul us (ortholog); ASSOCIATED WITH Acute Coronary Syndrome (ortholog); asphyxia neonatorum (ortholog); autoimmune hepatitis (ortholog); FOUND IN acrosomal vesicle (ortholog); apical plasma membrane (ortholog); cell surface (ortholog) | 15 | 22706520 | 22731672 | Bonobo | 85 | description | gene, protein-coding, MODEL [RefSeq] |
| 12189900 | PDIA3 | protein disulfide isomerase family A member 3 | ENCODES a protein that exhibits MHC class I protein binding (ortholog); peptidase activity (ortholog); protein-disulfide reductase (glutathione) activity (ortholog); INVOLVED IN cellular response to interleukin-7 (ortholog); cellular response to nonylphenol (ortholog); cellular response to transform ing growth factor beta stimulus (ortholog); ASSOCIATED WITH Acute Coronary Syndrome (ortholog); asphyxia neonatorum (ortholog); autoimmune hepatitis (ortholog); FOUND IN acrosomal vesicle (ortholog); apical plasma membrane (ortholog); cell surface (ortholog); INTERACTS WITH masitinib; phenobarbital | 30 | 10487926 | 10513437 | Dog | 88 | description | gene, protein-coding, MODEL [RefSeq] |
| 12728336 | Pdia3 | protein disulfide isomerase family A member 3 | ENCODES a protein that exhibits MHC class I protein binding (ortholog); peptidase activity (ortholog); protein-disulfide reductase (glutathione) activity (ortholog); INVOLVED IN cellular response to interleukin-7 (ortholog); cellular response to nonylphenol (ortholog); cellular response to transform ing growth factor beta stimulus (ortholog); ASSOCIATED WITH Acute Coronary Syndrome (ortholog); asphyxia neonatorum (ortholog); autoimmune hepatitis (ortholog); FOUND IN acrosomal vesicle (ortholog); apical plasma membrane (ortholog); cell surface (ortholog) | NW_004936471 | 6809181 | 6834189 | Squirrel | 85 | description | gene, protein-coding, MODEL [RefSeq] |
| 14277931 | PDIA3 | protein disulfide isomerase family A member 3 | ENCODES a protein that exhibits MHC class I protein binding (ortholog); peptidase activity (ortholog); protein-disulfide reductase (glutathione) activity (ortholog); INVOLVED IN cellular response to interleukin-7 (ortholog); cellular response to nonylphenol (ortholog); cellular response to transform ing growth factor beta stimulus (ortholog); ASSOCIATED WITH Acute Coronary Syndrome (ortholog); asphyxia neonatorum (ortholog); autoimmune hepatitis (ortholog); FOUND IN acrosomal vesicle (ortholog); apical plasma membrane (ortholog); cell surface (ortholog); INTERACTS WITH all-trans-retinyl palmitate; phosphatidylcholine | | | | Pig | 87 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 18736545 | PDIA3 | protein disulfide isomerase family A member 3 | ENCODES a protein that exhibits MHC class I protein binding (ortholog); peptidase activity (ortholog); protein-disulfide reductase (glutathione) activity (ortholog); INVOLVED IN cellular response to interleukin-7 (ortholog); cellular response to nonylphenol (ortholog); cellular response to transform ing growth factor beta stimulus (ortholog); ASSOCIATED WITH Acute Coronary Syndrome (ortholog); asphyxia neonatorum (ortholog); autoimmune hepatitis (ortholog); FOUND IN acrosomal vesicle (ortholog); apical plasma membrane (ortholog); cell surface (ortholog) | | | | Green Monkey | 86 | description | gene, protein-coding, MODEL [RefSeq] |
| 18928407 | Pdia3 | protein disulfide isomerase family A member 3 | ENCODES a protein that exhibits identical protein binding (ortholog); lncRNA binding (ortholog); MHC class I protein binding (ortholog); INVOLVED IN cellular response to interleukin-7 (ortholog); cellular response to nonylphenol (ortholog); cellular response to transforming growth factor beta stimul us (ortholog); ASSOCIATED WITH Acute Coronary Syndrome (ortholog); asphyxia neonatorum (ortholog); autoimmune hepatitis (ortholog); FOUND IN acrosomal vesicle (ortholog); apical plasma membrane (ortholog); cell surface (ortholog) | | | | Naked Mole-Rat | 85 | description | gene, protein-coding, MODEL [RefSeq] |
| 625932167 | Pdia3 | protein disulfide isomerase family A member 3 | ENCODES a protein that exhibits identical protein binding (ortholog); lncRNA binding (ortholog); MHC class I protein binding (ortholog); INVOLVED IN cellular response to interleukin-7 (ortholog); cellular response to nonylphenol (ortholog); cellular response to transforming growth factor beta stimul us (ortholog); ASSOCIATED WITH Acute Coronary Syndrome (ortholog); asphyxia neonatorum (ortholog); autoimmune hepatitis (ortholog); FOUND IN acrosomal vesicle (ortholog); apical plasma membrane (ortholog); cell surface (ortholog) | | | | Black Rat | 77 | description | gene, protein-coding, MODEL [RefSeq] |
| 8834238 | Polg | DNA polymerase gamma, catalytic subunit | ENCODES a protein that exhibits 3'-5' exonuclease activity (ortholog); 5'-deoxyribose-5-phosphate lyase activity (ortholog); chromatin binding (ortholog); INVOLVED IN base-excision repair (ortholog); base-excision repair, gap-filling (ortholog); cellular response to glucose stimulus (ortholog); ASSO CIATED WITH Alpers-Huttenlocher syndrome (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Ataxia (ortholog); FOUND IN gamma DNA polymerase complex (ortholog); mitochondrial chromosome (ortholog); mitochondrial matrix (ortholog) | NW_004955416 | 15773005 | 15788736 | Chinchilla | 195 | description | gene, protein-coding, MODEL [RefSeq] |
| 11941603 | POLG | DNA polymerase gamma, catalytic subunit | ENCODES a protein that exhibits DNA-directed DNA polymerase activity (ortholog); exonuclease activity (ortholog); INVOLVED IN base-excision repair, gap-filling (ortholog); cellular response to glucose stimulus (ortholog); determination of adult lifespan (ortholog); ASSOCIATED WITH Alpers-Huttenloche r syndrome (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Ataxia (ortholog); FOUND IN gamma DNA polymerase complex (ortholog); terminal bouton (ortholog) | 15 | 68008214 | 68028241 | Bonobo | 209 | description | gene, protein-coding, MODEL [RefSeq] |
| 12233232 | POLG | DNA polymerase gamma, catalytic subunit | ENCODES a protein that exhibits DNA-directed DNA polymerase activity (ortholog); exonuclease activity (ortholog); INVOLVED IN base-excision repair, gap-filling (ortholog); cellular response to glucose stimulus (ortholog); determination of adult lifespan (ortholog); ASSOCIATED WITH Alpers-Huttenloche r syndrome (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Ataxia (ortholog); FOUND IN gamma DNA polymerase complex (ortholog); terminal bouton (ortholog) | 3 | 52357062 | 52373768 | Dog | 208 | description | gene, protein-coding, MODEL [RefSeq] |
| 12471002 | Polg | DNA polymerase gamma, catalytic subunit | ENCODES a protein that exhibits DNA-directed DNA polymerase activity (ortholog); exonuclease activity (ortholog); INVOLVED IN base-excision repair, gap-filling (ortholog); cellular response to glucose stimulus (ortholog); determination of adult lifespan (ortholog); ASSOCIATED WITH Alpers-Huttenloche r syndrome (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Ataxia (ortholog); FOUND IN gamma DNA polymerase complex (ortholog); terminal bouton (ortholog) | NW_004936483 | 15178947 | 15196277 | Squirrel | 210 | description | gene, protein-coding, MODEL [RefSeq] |
| 14177006 | POLG | DNA polymerase gamma, catalytic subunit | ENCODES a protein that exhibits DNA-directed DNA polymerase activity (ortholog); exonuclease activity (ortholog); INVOLVED IN base-excision repair, gap-filling (ortholog); cellular response to glucose stimulus (ortholog); determination of adult lifespan (ortholog); ASSOCIATED WITH Alpers-Huttenloche r syndrome (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Ataxia (ortholog); FOUND IN gamma DNA polymerase complex (ortholog); terminal bouton (ortholog) | | | | Pig | 208 | description | gene, protein-coding, MODEL [RefSeq] |
| 18427812 | POLG | DNA polymerase gamma, catalytic subunit | ENCODES a protein that exhibits DNA-directed DNA polymerase activity (ortholog); exonuclease activity (ortholog); INVOLVED IN base-excision repair, gap-filling (ortholog); cellular response to glucose stimulus (ortholog); determination of adult lifespan (ortholog); ASSOCIATED WITH Alpers-Huttenloche r syndrome (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Ataxia (ortholog); FOUND IN gamma DNA polymerase complex (ortholog); terminal bouton (ortholog) | | | | Green Monkey | 209 | description | gene, protein-coding, MODEL [RefSeq] |
| 18934878 | Polg | DNA polymerase gamma, catalytic subunit | ENCODES a protein that exhibits 5'-deoxyribose-5-phosphate lyase activity (ortholog); chromatin binding (ortholog); DNA-directed DNA polymerase activity (ortholog); INVOLVED IN base-excision repair (ortholog); base-excision repair, gap-filling (ortholog); cellular response to glucose stimulus (ortho log); ASSOCIATED WITH Alpers-Huttenlocher syndrome (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Ataxia (ortholog); FOUND IN gamma DNA polymerase complex (ortholog); mitochondrial chromosome (ortholog); mitochondrial matrix (ortholog) | | | | Naked Mole-Rat | 205 | description | gene, protein-coding, MODEL [RefSeq] |
| 626071263 | Polg | DNA polymerase gamma, catalytic subunit | ENCODES a protein that exhibits 3'-5' exonuclease activity (ortholog); 5'-deoxyribose-5-phosphate lyase activity (ortholog); chromatin binding (ortholog); INVOLVED IN base-excision repair (ortholog); base-excision repair, gap-filling (ortholog); cellular response to glucose stimulus (ortholog); ASSO CIATED WITH Alpers-Huttenlocher syndrome (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Ataxia (ortholog); FOUND IN gamma DNA polymerase complex (ortholog); mitochondrial chromosome (ortholog); mitochondrial matrix (ortholog) | | | | Black Rat | 138 | description | gene, protein-coding, MODEL [RefSeq] |
| 621060 | Psen2 | presenilin 2 | ENCODES a protein that exhibits aspartic endopeptidase activity, intramembrane cleaving (ortholog); endopeptidase activity (ortholog); INVOLVED IN response to hypoxia; amyloid precursor protein catabolic process (ortholog); amyloid-beta formation (ortholog); PARTICIPATES IN altered Notch signaling p athway involving the macromolecules modifying the main players; Alzheimer's disease pathway; Notch signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Alzheimer's disease 4 (ortholog); asphyxia neonatorum (ortholog); FOUND IN early endosome; presynaptic membrane; synaptic membrane; INTERACTS WITH (+)-schisandrin B; 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene | 13 | 94499451 | 94528419 | Rat | 265 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 9045523 | Psen2 | presenilin 2 | ENCODES a protein that exhibits aspartic endopeptidase activity, intramembrane cleaving (ortholog); endopeptidase activity (ortholog); INVOLVED IN amyloid precursor protein catabolic process (ortholog); amyloid-beta formation (ortholog); amyloid-beta metabolic process (ortholog); PARTICIPATES IN alt ered Notch signaling pathway involving the macromolecules modifying the main players; Alzheimer's disease pathway; Notch signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Alzheimer's disease 4 (ortholog); asphyxia neonatorum (ortholog); FOUND IN centrosome (ortholog); ciliary basal body (ortholog); cytosol (ortholog) | NW_004955406 | 5727367 | 5748798 | Chinchilla | 116 | description | gene, protein-coding, MODEL [RefSeq] |
| 11717774 | PSEN2 | presenilin 2 | ENCODES a protein that exhibits aspartic endopeptidase activity, intramembrane cleaving (inferred); aspartic-type endopeptidase activity (inferred); endopeptidase activity (inferred); INVOLVED IN amyloid-beta metabolic process (ortholog); brain morphogenesis (ortholog); calcium ion transport (orthol og); PARTICIPATES IN altered Notch signaling pathway involving the macromolecules modifying the main players; Alzheimer's disease pathway; Notch signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Alzheimer's disease 4 (ortholog); asphyxia neonatorum (ortholog); FOUND IN ciliary basal body (ortholog); cytosol (ortholog); early endosome (ortholog) | 1 | 202328987 | 202354440 | Bonobo | 132 | description | gene, protein-coding, MODEL [RefSeq] |
| 12418449 | PSEN2 | presenilin 2 | ENCODES a protein that exhibits endopeptidase activity (ortholog); INVOLVED IN amyloid-beta metabolic process (ortholog); brain morphogenesis (ortholog); calcium ion transport (ortholog); PARTICIPATES IN altered Notch signaling pathway involving the macromolecules modifying the main players; Alzheim er's disease pathway; Notch signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Alzheimer's disease 4 (ortholog); asphyxia neonatorum (ortholog); FOUND IN ciliary basal body (ortholog); cytosol (ortholog); early endosome (ortholog) | 7 | 38147157 | 38163023 | Dog | 136 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 12576306 | Psen2 | presenilin 2 | ENCODES a protein that exhibits aspartic endopeptidase activity, intramembrane cleaving (inferred); aspartic-type endopeptidase activity (inferred); endopeptidase activity (inferred); INVOLVED IN amyloid-beta metabolic process (ortholog); brain morphogenesis (ortholog); calcium ion transport (orthol og); PARTICIPATES IN altered Notch signaling pathway involving the macromolecules modifying the main players; Alzheimer's disease pathway; Notch signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Alzheimer's disease 4 (ortholog); asphyxia neonatorum (ortholog); FOUND IN ciliary basal body (ortholog); cytosol (ortholog); early endosome (ortholog) | NW_004936526 | 3584194 | 3611719 | Squirrel | 128 | description | gene, protein-coding, MODEL [RefSeq] |
| 13867104 | PSEN2 | presenilin 2 | ENCODES a protein that exhibits aspartic endopeptidase activity, intramembrane cleaving (ortholog); endopeptidase activity (ortholog); INVOLVED IN amyloid-beta formation (ortholog); amyloid-beta metabolic process (ortholog); brain morphogenesis (ortholog); PARTICIPATES IN altered Notch signaling pat hway involving the macromolecules modifying the main players; Alzheimer's disease pathway; Notch signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Alzheimer's disease 4 (ortholog); asphyxia neonatorum (ortholog); FOUND IN ciliary basal body (ortholog); cytosol (ortholog); early endosome (ortholog) | | | | Pig | 136 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 18417300 | PSEN2 | presenilin 2 | ENCODES a protein that exhibits aspartic endopeptidase activity, intramembrane cleaving (inferred); aspartic-type endopeptidase activity (inferred); endopeptidase activity (inferred); INVOLVED IN amyloid-beta metabolic process (ortholog); brain morphogenesis (ortholog); calcium ion transport (orthol og); PARTICIPATES IN altered Notch signaling pathway involving the macromolecules modifying the main players; Alzheimer's disease pathway; Notch signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Alzheimer's disease 4 (ortholog); asphyxia neonatorum (ortholog); FOUND IN ciliary basal body (ortholog); cytosol (ortholog); early endosome (ortholog) | | | | Green Monkey | 132 | description | gene, protein-coding, MODEL [RefSeq] |
| 18903801 | Psen2 | presenilin 2 | ENCODES a protein that exhibits aspartic endopeptidase activity, intramembrane cleaving (inferred); aspartic-type endopeptidase activity (inferred); endopeptidase activity (inferred); INVOLVED IN amyloid-beta metabolic process (ortholog); brain morphogenesis (ortholog); calcium ion transport (orthol og); PARTICIPATES IN altered Notch signaling pathway involving the macromolecules modifying the main players; Alzheimer's disease pathway; Notch signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Alzheimer's disease 4 (ortholog); asphyxia neonatorum (ortholog); FOUND IN centrosome (ortholog); ciliary basal body (ortholog); cytosol (ortholog) | | | | Naked Mole-Rat | 124 | description | gene, protein-coding, MODEL [RefSeq] |
| 626041514 | Psen2 | presenilin 2 | ENCODES a protein that exhibits aspartic endopeptidase activity, intramembrane cleaving (ortholog); endopeptidase activity (ortholog); INVOLVED IN amyloid precursor protein catabolic process (ortholog); amyloid-beta formation (ortholog); amyloid-beta metabolic process (ortholog); PARTICIPATES IN alt ered Notch signaling pathway involving the macromolecules modifying the main players; Alzheimer's disease pathway; Notch signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Alzheimer's disease 4 (ortholog); asphyxia neonatorum (ortholog); FOUND IN centrosome (ortholog); ciliary basal body (ortholog); cytosol (ortholog) | | | | Black Rat | 115 | description | gene, protein-coding, MODEL [RefSeq] |
| 3631 | Scn1b | sodium voltage-gated channel beta subunit 1 | ENCODES a protein that exhibits sodium channel regulator activity; sodium channel inhibitor activity (ortholog); INVOLVED IN regulation of sodium ion transport; regulation of voltage-gated sodium channel activity; response to pyrethroid; PARTICIPATES IN alfentanil pharmacodynamics pathway; bupivacai ne pharmacodynamics pathway; buprenorphine pharmacodynamics pathway; ASSOCIATED WITH type 2 diabetes mellitus; asphyxiating thoracic dystrophy 3 (ortholog); benign epilepsy with centrotemporal spikes (ortholog); FOUND IN node of Ranvier; plasma membrane; voltage-gated sodium channel complex; INTERACTS WITH (+)-trans-(S)-allethrin; 17beta-estradiol; 2,2',4,4'-Tetrabromodiphenyl ether | 1 | 95481298 | 95491211 | Rat | 253 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8705090 | Scn1b | sodium voltage-gated channel beta subunit 1 | ENCODES a protein that exhibits sodium channel inhibitor activity (ortholog); sodium channel regulator activity (ortholog); INVOLVED IN axon guidance (ortholog); cardiac conduction (ortholog); cardiac muscle cell action potential involved in contraction (ortholog); PARTICIPATES IN alfentanil pharmac odynamics pathway; bupivacaine pharmacodynamics pathway; buprenorphine pharmacodynamics pathway; ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); benign epilepsy with centrotemporal spikes (ortholog); Brugada syndrome (ortholog); FOUND IN intercalated disc (ortholog); node of Ranvier (ortholog); plasma membrane (ortholog) | NW_004955468 | 4375517 | 4383383 | Chinchilla | 118 | description | gene, protein-coding, MODEL [RefSeq] |
| 12037991 | SCN1B | sodium voltage-gated channel beta subunit 1 | ENCODES a protein that exhibits sodium channel regulator activity (ortholog); INVOLVED IN axon guidance (ortholog); corticospinal neuron axon guidance (ortholog); locomotion (ortholog); PARTICIPATES IN alfentanil pharmacodynamics pathway; bupivacaine pharmacodynamics pathway; buprenorphine pharmacod ynamics pathway; ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); benign epilepsy with centrotemporal spikes (ortholog); Brugada syndrome (ortholog); FOUND IN plasma membrane (ortholog); voltage-gated sodium channel complex (ortholog) | 19 | 31974499 | 31984488 | Bonobo | 127 | description | gene, protein-coding, MODEL [RefSeq] |
| 12317220 | SCN1B | sodium voltage-gated channel beta subunit 1 | ENCODES a protein that exhibits sodium channel regulator activity (ortholog); INVOLVED IN axon guidance (ortholog); corticospinal neuron axon guidance (ortholog); locomotion (ortholog); PARTICIPATES IN alfentanil pharmacodynamics pathway; bupivacaine pharmacodynamics pathway; buprenorphine pharmacod ynamics pathway; ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); benign epilepsy with centrotemporal spikes (ortholog); Brugada syndrome (ortholog); FOUND IN plasma membrane (ortholog); voltage-gated sodium channel complex (ortholog) | 1 | 117504428 | 117510666 | Dog | 126 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 12523474 | Scn1b | sodium voltage-gated channel beta subunit 1 | ENCODES a protein that exhibits sodium channel regulator activity (ortholog); INVOLVED IN axon guidance (ortholog); corticospinal neuron axon guidance (ortholog); locomotion (ortholog); PARTICIPATES IN alfentanil pharmacodynamics pathway; bupivacaine pharmacodynamics pathway; buprenorphine pharmacod ynamics pathway; ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); benign epilepsy with centrotemporal spikes (ortholog); Brugada syndrome (ortholog); FOUND IN plasma membrane (ortholog); voltage-gated sodium channel complex (ortholog) | NW_004936570 | 1187916 | 1195423 | Squirrel | 127 | description | gene, protein-coding, MODEL [RefSeq] |
| 14070481 | SCN1B | sodium voltage-gated channel beta subunit 1 | ENCODES a protein that exhibits sodium channel regulator activity (ortholog); INVOLVED IN axon guidance (ortholog); corticospinal neuron axon guidance (ortholog); locomotion (ortholog); PARTICIPATES IN alfentanil pharmacodynamics pathway; bupivacaine pharmacodynamics pathway; buprenorphine pharmacod ynamics pathway; ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); benign epilepsy with centrotemporal spikes (ortholog); Brugada syndrome (ortholog); FOUND IN plasma membrane (ortholog); voltage-gated sodium channel complex (ortholog); INTERACTS WITH deoxynivalenol | | | | Pig | 131 | description | gene, protein-coding, MODEL [RefSeq] |
| 18737429 | SCN1B | sodium voltage-gated channel beta subunit 1 | ENCODES a protein that exhibits sodium channel regulator activity (ortholog); INVOLVED IN axon guidance (ortholog); corticospinal neuron axon guidance (ortholog); locomotion (ortholog); PARTICIPATES IN alfentanil pharmacodynamics pathway; bupivacaine pharmacodynamics pathway; buprenorphine pharmacod ynamics pathway; ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); benign epilepsy with centrotemporal spikes (ortholog); Brugada syndrome (ortholog); FOUND IN plasma membrane (ortholog); voltage-gated sodium channel complex (ortholog) | | | | Green Monkey | 127 | description | gene, protein-coding, MODEL [RefSeq] |
| 18925010 | Scn1b | sodium voltage-gated channel beta subunit 1 | ENCODES a protein that exhibits sodium channel regulator activity (ortholog); INVOLVED IN axon guidance (ortholog); cardiac conduction (ortholog); cardiac muscle contraction (ortholog); PARTICIPATES IN alfentanil pharmacodynamics pathway; bupivacaine pharmacodynamics pathway; buprenorphine pharmacod ynamics pathway; ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); benign epilepsy with centrotemporal spikes (ortholog); Brugada syndrome (ortholog); FOUND IN intercalated disc (ortholog); node of Ranvier (ortholog); plasma membrane (ortholog) | | | | Naked Mole-Rat | 123 | description | gene, protein-coding, MODEL [RefSeq] |
| 626063604 | Scn1b | sodium voltage-gated channel beta subunit 1 | ENCODES a protein that exhibits sodium channel inhibitor activity (ortholog); sodium channel regulator activity (ortholog); INVOLVED IN axon guidance (ortholog); cardiac conduction (ortholog); cardiac muscle cell action potential involved in contraction (ortholog); PARTICIPATES IN alfentanil pharmac odynamics pathway; bupivacaine pharmacodynamics pathway; buprenorphine pharmacodynamics pathway; ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); benign epilepsy with centrotemporal spikes (ortholog); Brugada syndrome (ortholog); FOUND IN intercalated disc (ortholog); node of Ranvier (ortholog); plasma membrane (ortholog) | | | | Black Rat | 114 | description | gene, protein-coding, MODEL [RefSeq] |
| 1307526 | Sltm | SAFB-like, transcription modulator | ENCODES a protein that exhibits nucleic acid binding (inferred); RNA binding (inferred); INVOLVED IN DNA-templated transcription (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); FOUND IN nuclear body (ortholog); nucleoplasm (ortholog); INT ERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,5-hexanedione; acrylamide | 8 | 80096555 | 80142668 | Rat | 94 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8730210 | Sltm | SAFB like transcription modulator | ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); FOUND IN nuclear body (ortholog); nucleoplasm (ortholog) | NW_004955450 | 15691472 | 15748123 | Chinchilla | 4 | description | gene, protein-coding, MODEL [RefSeq] |
| 11720241 | SLTM | SAFB like transcription modulator | ENCODES a protein that exhibits nucleic acid binding (inferred); RNA binding (inferred); sequence-specific DNA binding (inferred); INVOLVED IN DNA-templated transcription (inferred); regulation of mRNA processing (inferred); regulation of transcription by RNA polymerase II (inferred); ASSOCIATED WIT H asphyxiating thoracic dystrophy (ortholog); FOUND IN nuclear body (inferred); nucleoplasm (inferred); nucleus (inferred) | 15 | 37848629 | 37903221 | Bonobo | 14 | description | gene, protein-coding, MODEL [RefSeq] |
| 12432614 | SLTM | SAFB like transcription modulator | ENCODES a protein that exhibits nucleic acid binding (inferred); RNA binding (inferred); INVOLVED IN DNA-templated transcription (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); FOUND IN nuclear body (inferred); nucleoplasm (inferred); nuc leus (inferred) | 30 | 23858626 | 23902042 | Dog | 11 | description | gene, protein-coding, MODEL [RefSeq] |
| 12690826 | Sltm | SAFB like transcription modulator | ENCODES a protein that exhibits nucleic acid binding (inferred); RNA binding (inferred); sequence-specific DNA binding (inferred); INVOLVED IN regulation of mRNA processing (inferred); regulation of transcription by RNA polymerase II (inferred); ASSOCIATED WITH asph pan>yxiating thoracic dystrophy (ortholog); FOUND IN nuclear body (inferred); nucleoplasm (inferred); nucleus (inferred) | NW_004936471 | 20038137 | 20082410 | Squirrel | 13 | description | gene, protein-coding, MODEL [RefSeq] |
| 14156845 | SLTM | SAFB like transcription modulator | ENCODES a protein that exhibits nucleic acid binding (inferred); RNA binding (inferred); INVOLVED IN DNA-templated transcription (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); FOUND IN nuclear body (inferred); nucleoplasm (inferred); nuc leus (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 12 | description | gene, protein-coding, MODEL [RefSeq] |
| 18410151 | SLTM | SAFB like transcription modulator | ENCODES a protein that exhibits nucleic acid binding (inferred); RNA binding (inferred); sequence-specific DNA binding (inferred); INVOLVED IN DNA-templated transcription (inferred); regulation of mRNA processing (inferred); regulation of transcription by RNA polymerase II (inferred); ASSOCIATED WIT H asphyxiating thoracic dystrophy (ortholog); FOUND IN nuclear body (inferred); nucleoplasm (inferred); nucleus (inferred) | | | | Green Monkey | 14 | description | gene, protein-coding, MODEL [RefSeq] |
| 18904540 | Sltm | SAFB like transcription modulator | ENCODES a protein that exhibits nucleic acid binding (inferred); RNA binding (inferred); sequence-specific DNA binding (inferred); INVOLVED IN DNA-templated transcription (inferred); regulation of mRNA processing (inferred); regulation of transcription by RNA polymerase II (inferred); ASSOCIATED WIT H asphyxiating thoracic dystrophy (ortholog); FOUND IN nuclear body (ortholog); nucleoplasm (ortholog) | | | | Naked Mole-Rat | 14 | description | gene, protein-coding, MODEL [RefSeq] |
| 625906999 | Sltm | SAFB like transcription modulator | ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); FOUND IN nuclear body (ortholog); nucleoplasm (ortholog) | | | | Black Rat | 4 | description | gene, protein-coding, MODEL [RefSeq] |
| 1309640 | Smarcad1 | SNF2 related chromatin remodeling ATPase with DExD box 1 | ENCODES a protein that exhibits ATP-dependent chromatin remodeler activity (ortholog); ATP-dependent histone chaperone activity (ortholog); DNA binding (ortholog); INVOLVED IN chromatin remodeling (ortholog); chromosome separation (ortholog); DNA double-strand break processing (ortholog); ASSOCIATED WITH adermatoglyphia (ortholog); asphyxiating thoracic dystrophy (ortholog); BASAN syndrome (ortholog); FOUND IN heterochromatin (ortholog); nuclear replication fork (ortholog); nucleoplasm (ortholog); INTERACTS WITH allethrin; bisphenol A; cadmium dichloride | 4 | 95639722 | 95709055 | Rat | 120 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1320089 | Smarcad1 | SNF2 related chromatin remodeling ATPase with DExD box 1 | Predicted to enable DNA binding activity; chromatin binding activity; and nucleosome array spacer activity. Predicted to be involved in DNA double-strand break processing; chromosome separation; and regulation of macromolecule metabolic process. Located in heterochromatin and nucleus. Is expressed i n several structures, including alimentary system; central nervous system; eye; genitourinary system; and integumental system. Used to study asphyxiating thoracic dystrophy. Human ortholog(s) of this gene implicated in BASAN syndrome and adermatoglyphia. Orthologous to human SMARCAD1 (SNF2 related chromatin remodeling ATPase with DExD box 1). [provided by Alliance of Genome Resources, Jul 2025] | 6 | 65019577 | 65093045 | Mouse | 150 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 11933622 | SMARCAD1 | SNF2 related chromatin remodeling ATPase with DExD box 1 | ENCODES a protein that exhibits ATP binding (inferred); ATP-dependent chromatin remodeler activity (inferred); ATP-dependent histone chaperone activity (inferred); INVOLVED IN chromatin organization (inferred); chromatin remodeling (inferred); chromosome separation (inferred); ASSOCIATED WITH aderma toglyphia (ortholog); asphyxiating thoracic dystrophy (ortholog); BASAN syndrome (ortholog); FOUND IN chromosome (inferred); heterochromatin (inferred); nuclear replication fork (inferred) | 4 | 86567722 | 86651527 | Bonobo | 39 | description | gene, protein-coding, MODEL [RefSeq] |
| 12369367 | SMARCAD1 | SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 | ENCODES a protein that exhibits ATP binding (inferred); ATP-dependent chromatin remodeler activity (inferred); ATP-dependent histone chaperone activity (inferred); INVOLVED IN chromatin organization (inferred); chromatin remodeling (inferred); chromosome separation (inferred); ASSOCIATED WITH aderma toglyphia (ortholog); asphyxiating thoracic dystrophy (ortholog); BASAN syndrome (ortholog); FOUND IN chromosome (inferred); heterochromatin (inferred); nuclear replication fork (inferred) | 32 | 17089514 | 17167917 | Dog | 47 | description | gene, protein-coding, MODEL [RefSeq] |
| 12683735 | Smarcad1 | SNF2 related chromatin remodeling ATPase with DExD box 1 | ENCODES a protein that exhibits ATP binding (inferred); ATP-dependent chromatin remodeler activity (inferred); ATP-dependent histone chaperone activity (inferred); INVOLVED IN chromatin organization (inferred); chromatin remodeling (inferred); chromosome separation (inferred); ASSOCIATED WITH aderma toglyphia (ortholog); asphyxiating thoracic dystrophy (ortholog); BASAN syndrome (ortholog); FOUND IN chromosome (inferred); heterochromatin (inferred); nuclear replication fork (inferred) | NW_004936687 | 1728848 | 1803992 | Squirrel | 39 | description | gene, protein-coding, MODEL [RefSeq] |
| 13930095 | SMARCAD1 | SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 | ENCODES a protein that exhibits ATP binding (inferred); ATP-dependent chromatin remodeler activity (inferred); ATP-dependent histone chaperone activity (inferred); INVOLVED IN chromatin organization (inferred); chromatin remodeling (inferred); chromosome separation (inferred); ASSOCIATED WITH aderma toglyphia (ortholog); asphyxiating thoracic dystrophy (ortholog); BASAN syndrome (ortholog); FOUND IN chromosome (inferred); heterochromatin (inferred); nuclear replication fork (inferred) | | | | Pig | 47 | description | gene, protein-coding, MODEL [RefSeq] |
| 18753547 | SMARCAD1 | SNF2 related chromatin remodeling ATPase with DExD box 1 | ENCODES a protein that exhibits ATP binding (inferred); ATP-dependent chromatin remodeler activity (inferred); ATP-dependent histone chaperone activity (inferred); INVOLVED IN chromatin organization (inferred); chromatin remodeling (inferred); chromosome separation (inferred); ASSOCIATED WITH aderma toglyphia (ortholog); asphyxiating thoracic dystrophy (ortholog); BASAN syndrome (ortholog); FOUND IN chromosome (inferred); heterochromatin (inferred); nuclear replication fork (inferred) | | | | Green Monkey | 39 | description | gene, protein-coding, MODEL [RefSeq] |
| 18927696 | Smarcad1 | SNF2 related chromatin remodeling ATPase with DExD box 1 | ENCODES a protein that exhibits ATP-dependent chromatin remodeler activity (ortholog); ATP-dependent histone chaperone activity (ortholog); INVOLVED IN chromatin remodeling (ortholog); chromosome separation (ortholog); DNA double-strand break processing (ortholog); ASSOCIATED WITH adermatoglyphia (o rtholog); asphyxiating thoracic dystrophy (ortholog); BASAN syndrome (ortholog); FOUND IN heterochromatin (ortholog); nuclear replication fork (ortholog); nucleoplasm (ortholog) | | | | Naked Mole-Rat | 37 | description | gene, protein-coding, MODEL [RefSeq] |
| 625960642 | Smarcad1 | SNF2 related chromatin remodeling ATPase with DExD box 1 | ENCODES a protein that exhibits ATP-dependent chromatin remodeler activity (ortholog); ATP-dependent histone chaperone activity (ortholog); DNA binding (ortholog); INVOLVED IN chromatin remodeling (ortholog); chromosome separation (ortholog); DNA double-strand break processing (ortholog); ASSOCIATED WITH adermatoglyphia (ortholog); asphyxiating thoracic dystrophy (ortholog); BASAN syndrome (ortholog); FOUND IN heterochromatin (ortholog); nuclear replication fork (ortholog); nucleoplasm (ortholog) | | | | Black Rat | 25 | description | gene, protein-coding, MODEL [RefSeq] |
| 1309488 | Sox4 | SRY-box transcription factor 4 | ENCODES a protein that exhibits DNA binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); DNA-binding transcription factor activity (ortholog); INVOLVED IN response to hypoxia; ascending aorta morphogenesis (ortholog); atrial septum primum morphogen esis (ortholog); ASSOCIATED WITH Asphyxia; adenoid cystic carcinoma (ortholog); basal cell carcinoma (ortholog); FOUND IN cytoplasm (ortholog); nucleoplasm (ortholog); nucleus (ortholog); INTERACTS WITH 1-naphthyl isothiocyanate; 17alpha-ethynylestradiol; 2,6-dinitrotoluene | 17 | 35876298 | 35881004 | Rat | 324 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 10322056 | Sox4 | SRY-box transcription factor 4 | ENCODES a protein that exhibits DNA binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); DNA-binding transcription factor activity (ortholog); INVOLVED IN ascending aorta morphogenesis (ortholog); atrial septum primum morphogenesis (ortholog); card iac right ventricle morphogenesis (ortholog); ASSOCIATED WITH adenoid cystic carcinoma (ortholog); Asphyxia (ortholog); basal cell carcinoma (ortholog); FOUND IN cytoplasm (ortholog); nucleoplasm (ortholog); nucleus (ortholog) | NW_004955483 | 5076664 | 5077059 | Chinchilla | 91 | description | gene, protein-coding, MODEL [RefSeq] |
| 11945563 | SOX4 | SRY-box transcription factor 4 | ENCODES a protein that exhibits DNA binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); DNA-binding transcription factor activity (ortholog); INVOLVED IN ascending aorta morphogenesis (ortholog); atrial septum primum morphogenesis (ortholog); card iac right ventricle morphogenesis (ortholog); ASSOCIATED WITH adenoid cystic carcinoma (ortholog); Asphyxia (ortholog); basal cell carcinoma (ortholog); FOUND IN cytoplasm (ortholog); nucleoplasm (ortholog); nucleus (ortholog) | 6 | 21422846 | 21427779 | Bonobo | 91 | description | gene, protein-coding, MODEL [RefSeq] |
| 12230005 | SOX4 | SRY-box transcription factor 4 | ENCODES a protein that exhibits DNA-binding transcription factor activity (ortholog); INVOLVED IN endocrine pancreas development (ortholog); hematopoietic stem cell homeostasis (ortholog); response to hypoxia (ortholog); ASSOCIATED WITH adenoid cystic carcinoma (ortholog); Asph 00;'>Asphyxia (ortholog); basal cell carcinoma (ortholog); FOUND IN cytoplasm (inferred); nucleoplasm (inferred); nucleus (inferred) | 35 | 20098783 | 20101357 | Dog | 95 | description | gene, protein-coding, MODEL [RefSeq] |
| 14233305 | SOX4 | SRY-box transcription factor 4 | ENCODES a protein that exhibits DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); DNA-binding transcription factor activity (ortholog); RNA polymerase II cis-regulatory region sequence-specific DNA binding (ortholog); INVOLVED IN cellular response to glucose stimul us (ortholog); endocrine pancreas development (ortholog); glial cell proliferation (ortholog); ASSOCIATED WITH adenoid cystic carcinoma (ortholog); Asphyxia (ortholog); basal cell carcinoma (ortholog); FOUND IN cytoplasm (ortholog); mitochondrion (ortholog); nucleus (ortholog); INTERACTS WITH resveratrol | | | | Pig | 123 | description | gene, protein-coding, MODEL [RefSeq] |
| 18907794 | Sox4 | SRY-box transcription factor 4 | ENCODES a protein that exhibits DNA-binding transcription factor activity (ortholog); miRNA binding (ortholog); transcription cis-regulatory region binding (ortholog); INVOLVED IN ascending aorta morphogenesis (ortholog); atrial septum primum morphogenesis (ortholog); cardiac right ventricle morphog enesis (ortholog); ASSOCIATED WITH adenoid cystic carcinoma (ortholog); Asphyxia (ortholog); basal cell carcinoma (ortholog); FOUND IN cytoplasm (ortholog); nucleoplasm (ortholog); transcription regulator complex (ortholog) | | | | Naked Mole-Rat | 95 | description | gene, protein-coding, MODEL [RefSeq] |
| 598134875 | SOX4 | SRY-box transcription factor 4 | ENCODES a protein that exhibits DNA-binding transcription factor activity (ortholog); INVOLVED IN endocrine pancreas development (ortholog); hematopoietic stem cell homeostasis (ortholog); response to hypoxia (ortholog); ASSOCIATED WITH adenoid cystic carcinoma (ortholog); Asph 00;'>Asphyxia (ortholog); basal cell carcinoma (ortholog); FOUND IN cytoplasm (inferred); nucleoplasm (inferred); nucleus (inferred) | | | | Green Monkey | 95 | description | gene, protein-coding, MODEL [RefSeq] |
| 626072559 | Sox4 | SRY-box transcription factor 4 | ENCODES a protein that exhibits DNA binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); DNA-binding transcription factor activity (ortholog); INVOLVED IN ascending aorta morphogenesis (ortholog); atrial septum primum morphogenesis (ortholog); card iac right ventricle morphogenesis (ortholog); ASSOCIATED WITH adenoid cystic carcinoma (ortholog); Asphyxia (ortholog); basal cell carcinoma (ortholog); FOUND IN cytoplasm (ortholog); nucleoplasm (ortholog); nucleus (ortholog) | | | | Black Rat | 91 | description | gene, protein-coding, MODEL [RefSeq] |
| 1309252 | Traf3ip1 | TRAF3 interacting protein 1 | ENCODES a protein that exhibits microtubule binding (inferred); INVOLVED IN cilium assembly (ortholog); embryonic camera-type eye development (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuq uois dysplasia (ortholog); Ellis-Van Creveld syndrome (ortholog); FOUND IN axoneme (ortholog); centrosome (ortholog); ciliary basal body (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene; 2,6-dinitrotoluene | 9 | 99521176 | 99557966 | Rat | 123 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 8914392 | Traf3ip1 | TRAF3 interacting protein 1 | INVOLVED IN cilium assembly (ortholog); embryonic camera-type eye development (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); Ellis-Van Creveld syndrome (ortholog) ; FOUND IN axoneme (ortholog); centrosome (ortholog); ciliary basal body (ortholog) | NW_004955542 | 2264472 | 2301083 | Chinchilla | 48 | description | gene, protein-coding, MODEL [RefSeq] |
| 11687870 | TRAF3IP1 | TRAF3 interacting protein 1 | ENCODES a protein that exhibits microtubule binding (inferred); INVOLVED IN cilium assembly (ortholog); embryonic camera-type eye development (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuq uois dysplasia (ortholog); Ellis-Van Creveld syndrome (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary basal body (inferred) | 2B | 125558537 | 125637733 | Bonobo | 60 | description | gene, protein-coding, MODEL [RefSeq] |
| 12087910 | TRAF3IP1 | TRAF3 interacting protein 1 | ENCODES a protein that exhibits microtubule binding (inferred); INVOLVED IN cilium assembly (ortholog); embryonic camera-type eye development (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuq uois dysplasia (ortholog); Ellis-Van Creveld syndrome (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary basal body (inferred) | 25 | 48782448 | 48836993 | Dog | 60 | description | gene, protein-coding, MODEL [RefSeq] |
| 12523306 | Traf3ip1 | TRAF3 interacting protein 1 | ENCODES a protein that exhibits microtubule binding (inferred); INVOLVED IN cilium assembly (ortholog); embryonic camera-type eye development (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuq uois dysplasia (ortholog); Ellis-Van Creveld syndrome (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary basal body (inferred) | NW_004936525 | 115614 | 174641 | Squirrel | 60 | description | gene, protein-coding, MODEL [RefSeq] |
| 14141962 | TRAF3IP1 | TRAF3 interacting protein 1 | ENCODES a protein that exhibits microtubule binding (inferred); INVOLVED IN cilium assembly (ortholog); embryonic camera-type eye development (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuq uois dysplasia (ortholog); Ellis-Van Creveld syndrome (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary basal body (inferred) | | | | Pig | 60 | description | gene, protein-coding, MODEL [RefSeq] |
| 18598922 | TRAF3IP1 | TRAF3 interacting protein 1 | ENCODES a protein that exhibits microtubule binding (inferred); INVOLVED IN cilium assembly (ortholog); embryonic camera-type eye development (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuq uois dysplasia (ortholog); Ellis-Van Creveld syndrome (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary basal body (inferred) | | | | Green Monkey | 60 | description | gene, protein-coding, MODEL [RefSeq] |
| 18906197 | Traf3ip1 | TRAF3 interacting protein 1 | ENCODES a protein that exhibits microtubule binding (inferred); INVOLVED IN cilium assembly (ortholog); embryonic camera-type eye development (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuq uois dysplasia (ortholog); Ellis-Van Creveld syndrome (ortholog); FOUND IN centrosome (ortholog); ciliary base (ortholog); ciliary tip (ortholog) | | | | Naked Mole-Rat | 53 | description | gene, protein-coding, MODEL [RefSeq] |
| 626042108 | Traf3ip1 | TRAF3 interacting protein 1 | INVOLVED IN cilium assembly (ortholog); embryonic camera-type eye development (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); Ellis-Van Creveld syndrome (ortholog) ; FOUND IN axoneme (ortholog); centrosome (ortholog); ciliary basal body (ortholog) | | | | Black Rat | 48 | description | gene, protein-coding, MODEL [RefSeq] |
| 1344161 | TTC21B | tetratricopeptide repeat domain 21B | This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthis is 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011] | 2 | 165873362 | 165953776 | Human | 1242 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1557198 | Ttc21b | tetratricopeptide repeat domain 21B | Enables chromatin binding activity. Acts upstream of or within several processes, including central nervous system development; intraciliary retrograde transport; and regulation of signal transduction. Part of intraciliary transport particle A. Is expressed in central nervous system; embryo ectoderm ; limb; and somite. Used to study cystic kidney disease. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy 4 and nephronophthisis 12. Orthologous to human TTC21B (tetratricopeptide repeat domain 21B). [provided by Alliance of Genome Resources, Jul 2025] | 2 | 66014131 | 66087144 | Mouse | 146 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1549987 | Wdr19 | WD repeat domain 19 | Acts upstream of or within several processes, including chordate embryonic development; embryonic organ development; and myotome development. Located in motile cilium and photoreceptor connecting cilium. Part of intraciliary transport particle A. Is expressed in several structures, including aliment ary system; genitourinary system; hemolymphoid system gland; liver; and lung. Used to study ciliopathy. Human ortholog(s) of this gene implicated in several diseases, including Caroli disease; Senior-Loken syndrome; asphyxiating thoracic dystrophy 5; cranioectodermal dysplasia 4; and nephronophthisis 13. Orthologous to human WDR19 (WD repeat domain 19). [provided by Alliance of Genome Resources, Jul 2025] | 5 | 65357039 | 65417758 | Mouse | 216 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1564116 | Wdr35 | WD repeat domain 35 | INVOLVED IN cellular response to glucose stimulus; cellular response to tumor necrosis factor; cellular response to xenobiotic stimulus; ASSOCIATED WITH Experimental Diabetes Mellitus; liver cirrhosis; asphyxiating thoracic dystrophy (ortholog); FOUND IN axoneme (ortholog); centrosome (ortholog); ciliary basal body (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3-Dioxo-6-nitro-7-sulfamoylbenzo(f)quinoxaline; aflatoxin B1 | 6 | 37490557 | 37550391 | Rat | 133 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 8929377 | Wdr35 | WD repeat domain 35 | INVOLVED IN cellular response to glucose stimulus (ortholog); cellular response to leukemia inhibitory factor (ortholog); cellular response to tumor necrosis factor (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN axoneme (ortholog); centrosome (ortholog); ciliary basal body (ortholog) | NW_004955469 | 2484972 | 2546562 | Chinchilla | 45 | description | gene, protein-coding, MODEL [RefSeq] |
| 11780914 | WDR35 | WD repeat domain 35 | INVOLVED IN cellular response to glucose stimulus (ortholog); cellular response to leukemia inhibitory factor (ortholog); cellular response to tumor necrosis factor (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary basal body (inferred) | 2A | 19896498 | 19977295 | Bonobo | 55 | description | gene, protein-coding, MODEL [RefSeq] |
| 12297593 | WDR35 | WD repeat domain 35 | INVOLVED IN cellular response to glucose stimulus (ortholog); cellular response to leukemia inhibitory factor (ortholog); cellular response to tumor necrosis factor (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary basal body (inferred) | 17 | 14976662 | 15034918 | Dog | 54 | description | gene, protein-coding, MODEL [RefSeq] |
| 12667833 | Wdr35 | WD repeat domain 35 | INVOLVED IN cellular response to glucose stimulus (ortholog); cellular response to leukemia inhibitory factor (ortholog); cellular response to tumor necrosis factor (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary basal body (inferred) | NW_004936493 | 11374681 | 11435792 | Squirrel | 55 | description | gene, protein-coding, MODEL [RefSeq] |
| 14052031 | WDR35 | WD repeat domain 35 | INVOLVED IN cellular response to glucose stimulus (ortholog); cellular response to leukemia inhibitory factor (ortholog); cellular response to tumor necrosis factor (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary basal body (inferred) | | | | Pig | 54 | description | gene, protein-coding, MODEL [RefSeq] |
| 18447912 | WDR35 | WD repeat domain 35 | INVOLVED IN cellular response to glucose stimulus (ortholog); cellular response to leukemia inhibitory factor (ortholog); cellular response to tumor necrosis factor (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary basal body (inferred) | | | | Green Monkey | 55 | description | gene, protein-coding, MODEL [RefSeq] |
| 18925946 | Wdr35 | WD repeat domain 35 | INVOLVED IN cellular response to glucose stimulus (ortholog); cellular response to leukemia inhibitory factor (ortholog); cellular response to tumor necrosis factor (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary basal body (inferred) | | | | Naked Mole-Rat | 55 | description | gene, protein-coding, MODEL [RefSeq] |
| 625872389 | Wdr35 | WD repeat domain 35 | INVOLVED IN cellular response to glucose stimulus (ortholog); cellular response to leukemia inhibitory factor (ortholog); cellular response to tumor necrosis factor (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN axoneme (ortholog); centrosome (ortholog); ciliary basal body (ortholog) | | | | Black Rat | 45 | description | gene, protein-coding, MODEL [RefSeq] |
| 619823 | Xrcc1 | X-ray repair cross complementing 1 | ENCODES a protein that exhibits 3' overhang single-stranded DNA endodeoxyribonuclease activity (ortholog); ADP-D-ribose modification-dependent protein binding (ortholog); enzyme binding (ortholog); INVOLVED IN base-excision repair; DNA damage response; response to hypoxia; PARTICIPATES IN base excis ion repair pathway; nucleotide excision repair pathway; ASSOCIATED WITH asphyxia neonatorum; Experimental Seizures; in situ carcinoma; FOUND IN chromatin (ortholog); chromosome, telomeric region (ortholog); ERCC4-ERCC1 complex (ortholog); INTERACTS WITH (+)-pilocarpine; (+)-schisandrin B; 2,3,7,8-tetrachlorodibenzodioxine | 1 | 89268721 | 89296619 | Rat | 440 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 8865835 | Xrcc1 | X-ray repair cross complementing 1 | ENCODES a protein that exhibits 3' overhang single-stranded DNA endodeoxyribonuclease activity (ortholog); ADP-D-ribose modification-dependent protein binding (ortholog); enzyme binding (ortholog); INVOLVED IN base-excision repair (ortholog); DNA damage response (ortholog); DNA repair (ortholog); PA RTICIPATES IN base excision repair pathway; nucleotide excision repair pathway; ASSOCIATED WITH 5 Alpha Fluorouracil Toxicity (ortholog); acute lymphoblastic leukemia (ortholog); asphyxia neonatorum (ortholog); FOUND IN chromatin (ortholog); chromosome, telomeric region (ortholog); ERCC4-ERCC1 complex (ortholog) | NW_004955555 | 1293416 | 1315839 | Chinchilla | 191 | description | gene, protein-coding, MODEL [RefSeq] |
| 11791631 | XRCC1 | X-ray repair cross complementing 1 | ENCODES a protein that exhibits 3' overhang single-stranded DNA endodeoxyribonuclease activity (inferred); ADP-D-ribose modification-dependent protein binding (inferred); damaged DNA binding (inferred); INVOLVED IN base-excision repair (ortholog); DNA damage response (ortholog); DNA repair (ortholog ); PARTICIPATES IN base excision repair pathway; nucleotide excision repair pathway; ASSOCIATED WITH 5 Alpha Fluorouracil Toxicity (ortholog); acute lymphoblastic leukemia (ortholog); asphyxia neonatorum (ortholog); FOUND IN chromatin (inferred); chromosome (inferred); chromosome, telomeric region (inferred) | 19 | 40485052 | 40522188 | Bonobo | 201 | description | gene, protein-coding, MODEL [RefSeq] |
| 12298741 | XRCC1 | X-ray repair cross complementing 1 | ENCODES a protein that exhibits 3' overhang single-stranded DNA endodeoxyribonuclease activity (inferred); ADP-D-ribose modification-dependent protein binding (inferred); damaged DNA binding (inferred); INVOLVED IN base-excision repair (ortholog); DNA damage response (ortholog); DNA repair (ortholog ); PARTICIPATES IN base excision repair pathway; nucleotide excision repair pathway; ASSOCIATED WITH 5 Alpha Fluorouracil Toxicity (ortholog); acute lymphoblastic leukemia (ortholog); asphyxia neonatorum (ortholog); FOUND IN chromatin (inferred); chromosome (inferred); chromosome, telomeric region (inferred) | 1 | 111548719 | 111571816 | Dog | 201 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 12631110 | Xrcc1 | X-ray repair cross complementing 1 | ENCODES a protein that exhibits 3' overhang single-stranded DNA endodeoxyribonuclease activity (inferred); ADP-D-ribose modification-dependent protein binding (inferred); damaged DNA binding (inferred); INVOLVED IN base-excision repair (ortholog); DNA damage response (ortholog); DNA repair (ortholog ); PARTICIPATES IN base excision repair pathway; nucleotide excision repair pathway; ASSOCIATED WITH 5 Alpha Fluorouracil Toxicity (ortholog); acute lymphoblastic leukemia (ortholog); asphyxia neonatorum (ortholog); FOUND IN chromatin (inferred); chromosome (inferred); chromosome, telomeric region (inferred) | NW_004936706 | 752571 | 783746 | Squirrel | 201 | description | gene, protein-coding, MODEL [RefSeq] |
| 13937601 | XRCC1 | X-ray repair cross complementing 1 | ENCODES a protein that exhibits 3' overhang single-stranded DNA endodeoxyribonuclease activity (inferred); ADP-D-ribose modification-dependent protein binding (inferred); damaged DNA binding (inferred); INVOLVED IN base-excision repair (ortholog); DNA damage response (ortholog); DNA repair (ortholog ); PARTICIPATES IN base excision repair pathway; nucleotide excision repair pathway; ASSOCIATED WITH 5 Alpha Fluorouracil Toxicity (ortholog); acute lymphoblastic leukemia (ortholog); asphyxia neonatorum (ortholog); FOUND IN chromatin (inferred); chromosome (inferred); chromosome, telomeric region (inferred); INTERACTS WITH ochratoxin A | | | | Pig | 202 | description | gene, protein-coding, MODEL [RefSeq] |
| 18450074 | XRCC1 | X-ray repair cross complementing 1 | ENCODES a protein that exhibits 3' overhang single-stranded DNA endodeoxyribonuclease activity (inferred); ADP-D-ribose modification-dependent protein binding (inferred); damaged DNA binding (inferred); INVOLVED IN base-excision repair (ortholog); DNA damage response (ortholog); DNA repair (ortholog ); PARTICIPATES IN base excision repair pathway; nucleotide excision repair pathway; ASSOCIATED WITH 5 Alpha Fluorouracil Toxicity (ortholog); asphyxia neonatorum (ortholog); autosomal recessive spinocerebellar ataxia 26 (ortholog); FOUND IN chromatin (inferred); chromosome (inferred); chromosome, telomeric region (inferred) | | | | Green Monkey | 201 | description | gene, protein-coding, MODEL [RefSeq] |
| 18935618 | Xrcc1 | X-ray repair cross complementing 1 | ENCODES a protein that exhibits 3' overhang single-stranded DNA endodeoxyribonuclease activity (inferred); ADP-D-ribose modification-dependent protein binding (inferred); damaged DNA binding (inferred); INVOLVED IN base-excision repair (ortholog); DNA damage response (ortholog); DNA repair (ortholog ); PARTICIPATES IN base excision repair pathway; nucleotide excision repair pathway; ASSOCIATED WITH 5 Alpha Fluorouracil Toxicity (ortholog); acute lymphoblastic leukemia (ortholog); asphyxia neonatorum (ortholog); FOUND IN chromatin (inferred); chromosome (inferred); chromosome, telomeric region (inferred) | | | | Naked Mole-Rat | 201 | description | gene, protein-coding, MODEL [RefSeq] |
| 626104033 | Xrcc1 | X-ray repair cross complementing 1 | ENCODES a protein that exhibits 3' overhang single-stranded DNA endodeoxyribonuclease activity (ortholog); ADP-D-ribose modification-dependent protein binding (ortholog); enzyme binding (ortholog); INVOLVED IN base-excision repair (ortholog); DNA damage response (ortholog); DNA repair (ortholog); PA RTICIPATES IN base excision repair pathway; nucleotide excision repair pathway; ASSOCIATED WITH 5 Alpha Fluorouracil Toxicity (ortholog); asphyxia neonatorum (ortholog); autosomal recessive spinocerebellar ataxia 26 (ortholog); FOUND IN chromatin (ortholog); chromosome, telomeric region (ortholog); ERCC4-ERCC1 complex (ortholog) | | | | Black Rat | 191 | description | gene, protein-coding, MODEL [RefSeq] |